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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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45,X

  • Same entry as in 01q110 (Dawson et al, 2003).

  • Same entry as in 05p152 (Reddy et al, 1999).

  • Same entry as in 0Xp000 (Witters et al, 2001).

  • Same entry as in 0Xp100 (Migeon et al, 1994).

  • Same entry as in 0Xp1122 (Nowaczyk et al, 1998).

  • Same entry as in 0Xp210 (James et al, 1997).

  • Same entry as in 0Xp212 (Soyke et al, 1998).

  • Same entry as in 0Xp220 (Ogata et al, 1998).

  • Same entry as in 0Xp221 (Gutierrez-Angulo et al, 2002).

  • Same entry as in 0Xq200 (Kocova et al, 1995).

  • Same entry as in 0Xq230 (Mesa-Cornejo et al, 2001).

  • Same entry as in 0Xq260 (Calvano et al, 2002).

  • Same entry as in 0Xq261 (Davison et al, 1998).

  • Same entry as in 0Xq273 (Marshall et al, 2003).

  • Same entry as in 0Yp112 (Kelly et al, 1998).

  • Same entry as in 0Yp113 (Chernykh et al, 2008).

  • Same entry as in 0Yp113 (Novelli et al, 1996).

  • Same entry as in 0Yq100 (Jaruzelska et al, 2001).

  • Same entry as in 0Yq110 (Stuppia et al, 1996).

  • Same entry as in 0Yq112 (Macera et al, 1994).

  • Same entry as in 0Yq112 (Reddy et al, 1996).

  • Same entry as in 0Yq112 (Udler et al, 2001).

  • Same entry as in 0Yq112, 0X0000 (Schwartz et al, 1997).

  • Same entry as in 0Yq120 (Hoshi et al, 1998).

  • Same entry as in 13+ (Klatt, 1995).

  • Same entry as in 16p133 (Kellermayer et al, 2005).

  • Same entry as in 18+ (Hanna et al, 1996).

  • Same entry as in 210000 (Digilio et al, 1994).

  • Same entry as in 21+ (Hayashi et al, 1996).

  • Same entry as in 45,X/47,+21 (Van et al, 1994).

  • Same entry as in 47,XXX (Wallerstein et al, 2003).

  • Same entry as in 0Xp110, 0Xp212, and 0Xp221 (James et al, 1998).

  • Same entry as in 0Xp220 (Blumenthal and Allanson, 1997).

  • Same entry as in 0Xq210 (Fernandez and Pasaro, 1998).

  • Same entry as in 0Yp1132 (Aktas et al, 2006).

  • Same entry as in 0Yq100 (Davalos et al, 2002).

  • Same entry as in 18+ (van et al, 1997).

  • Same entry as in 21+ (Hafner et al, 1998).

  • Same entry as in 21+ (Vesce et al, 2001).

  • Same entry as in 01p361 (Abbas N et al, 1990).

  • Abraham S F, Beumont P J V, Booth A, Smith A: Anorexia nervosa, pregnancy and XO/XX mosaicism. Med. J. Austral. i:582-583, 1981. [PubMed: 7254037]
    Index Terms: Anorexia nervosa
  • Same entry as in 18+ (Abramowicz J S et al, 1989).

  • Abulhasan S J, Tayel S M, Al-Awadi S A.: Mosaic Turner syndrome: cytogenetics versus FISH. Ann. Hum. Genet. 63:199-206, 1999. [PubMed: 10738532]
    22 patients with TS were studied.
    FISH proved useful in identifying low frequency mosaic cell lines.
  • Same entry as in 0Xp200 (Abulhasan et al, 1990).

  • Acharya G, Jonsrud C, van der Hagen CB, Martin Maltau J.: Prenatal diagnosis of fetal hyrops associated with Down''s syndrome in a 40-year-old woman with a mosaic Turner''s karyotype (45,X/47,XXX). Acta Obstet. Gynecol. Scand. 82:773-774, 2003. [PubMed: 12848653]
    At age 17 years=Blood-45,X; Skin-45,X[4]/47,XXX[4].,At age 37 years=Blood [30] and skin [30] both showed 45,X cell line.,Amnio=47,XX,+21.
    Pregnancy was terminated, and fetus was found to have anomalies consistent with DS.
    Index Terms: Fetal hydrops, Pregnancy in TS
  • Al-Awadi S A, Cuschieri A, Farag T I, Naguib A S, Teebi A S, Al-Othman S A, Bahig A H: Ullrich-Turner syndrome in monozygotic twins. AJMG 15:537-542, 1983. [PubMed: 6684396]
    Index Terms: Turner syndrome ... in twins
  • Al-Awadi S A, Farag T I, Krishna Murthy D S, El-Badramany M H, Al-Azemi M K, Qurton M.: Mixed gonadal dysgenesis with struvtural anomalies of the Y chromosome. Ann. Saudi Med. 14:267-268, 1994. [PubMed: 17586911]
    mos45,X[53%]/46,XY[35%]/47,XYY[2%]/46,X,abnormal(Y)[10%]
    The 16 yo female was referred because of short stature, primary amenorrhea and clitoromegaly.
    Index Terms: Mixed gonadal dysgenesis
  • Alexander D S, Ehrhardt A A, Money J W: Defective figure drawing, geometric and human, in Turner''s syndrome. J. Nerv. Ment. Dis. 142:161-167, 1966. [PubMed: 5327680]
  • Almeida J C C: Ullrich-Turner syndrome, chromosome mosaicism and prophylactic gonadectomy. Brazil J. Genet. 15:979-980, 1992.
    de Almeida J C C, Llerena J C, Jr, Gomes D M, Martins R R, Jung M, Reis D F, Cunha A G: G-11 staining in Turner''s syndrome with mos 45,X/46,X,r(?). Ann. Genet. 28:37-41, 1985. [PubMed: 2409888]
    de Almeida J C C, Llerena J C, Jr, Martins R R, Jung M, Reis D F, Cunha A G, Gomes D M: Monozygotic twins with Turner''s syndrome and mos45,X/46,X,r(Y). Ann. Genet. 28:32-36, 1985. [PubMed: 3874586]
    Twins I: R. C., and II: T. C.
    Interesting comment about priority for work done in Brazil.
  • Alvesalo L, Tammisalo E: Enamel thickness in 45,X females'' permanent teeth. AJHG 33:464-469, 1981. [PMC free article: PMC1685033] [PubMed: 7246547]
  • Amiel A, Kidron D, Kedar I, Gaber E, Reish O, Fejgin M D.: Are all phenotypically-normal Turner syndrome fetuses mosaics? Prenat. Diag. 16:791-795, 1996. [PubMed: 8905892]
    Four cases were discussed.
    mos45,X/46,XX
    The possibility of mosaicism should be discussed in prenatally detected cases since phenotypical abnornmalities may not be necessarily present in these instances.
  • Anderson H, Filipsson R, Fluur E, Koch B, Lindsten J, Wedenberg E: Hearing impairment in Turner''s syndrome. Acta Oto-Laryngol. Suppl. 247:1-26, 1969. [PubMed: 5373614]
    Index Terms: Hearing in Turner syndrome
  • de la Chapelle A, Page D C, Brown L, Kaski U, Parvinen T, Tippett P A: The origin of 45,X males. AJHG 38:330-340, 1986. [PMC free article: PMC1684785] [PubMed: 3006482]
    Case 2 in the 1986 report and case 3 in the 1988 report.
    45,X,t(Y;14)(14qter->14p1::Yq1->Ypter).
    Patient was 14 years old boy with penoscrotal hypospadias. His psychomotor development is slightly retarded.
    Three 45,X males have been studied with Y-DNA probes by Southern blotting and in situ hybridization.
    45,X,t(Y;15p1).
    Case 1 was reported previously by Subrt and Blehova (1974).
  • Same entry as in 0Yp110 (Arnemann J et al, 1991).

  • Arulanantham K, Kramer M S, Gryboski J D: The association of inflammatory bowel disease and X chromosomal abnormality. Pediatrics 66:63-67, 1980. [PubMed: 7402792]
    It was speculated that abnormal immune mechanism could increase susceptibility to IBD.,Patients were 45,X;45,X/46,XX;45,X/46,X,i(Xq); or 47,X,i(Xq)i(Xq).
  • Asch A J: Turner''s Syndrome occurring with Horner''s Syndrome. Seen with coarctation of the Aorta and Aortic aneurysm. AJDC 133:827-830, 1979. [PubMed: 380324]
    The 8 year old was operated on for her cardiac anomaly and has been reported to be doing well.
    Index Terms: Horner syndrome
  • Ashworth A, Rastan S, Lovell-Badge R, Kay G: X-chromosome inactivation may explain the difference in viability of XO humans and mice. Nature 351:406-408, 1991. [PubMed: 2034290]
    Index Terms: X inactivation
  • Assumpc+úo J G, Hackel C, Marques-de-Faria A P, Palandi de Mello M.: Molecular mapping of an Idic(Yp) chromosome in an Ullrich-Turner patient. AJMG 91:95-98, 2000. [PubMed: 10748404]
    The 23 year old Caucasian woman was referredbecause of primary amenorrhea.
    mos45,X/46,idic(Yp)
    The phenotypic expression, including sex determination, appeared to have had moreinfluence from the 45,X cell line.
    The breakpoint was at Yq11 (interval 6).
  • Atkins K E, Gregg A, Spikes A S, Bacino C A, Bejjani B A, Kirkland J, Shaffer L G.: Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory. AJMG 91:377-382, 2000. [PubMed: 10767002]
    Four cases with varying degrees of mosaicism in the gonadal tissues were reported. The Y chromosome was a small marker or a idic.
  • Ayuso M C, Bello M J, Benitez J, Sanchez-Cascos A, Mendoza G: Two fertile Turner women in a family. Clin. Genet. 26:591-596, 1984. [PubMed: 6499271]
    Ayuso M C, Ramos M C, Bello M C, Jimenez A, Sanchez-Cascos A, Herrera J L: Cytogenetic and clinical findings in ten 45,X/46,XY patients. Clin. Genet. 25:336-340, 1984. [PubMed: 6713709]
    Case 1.
    mos45,X/46,X,r(X), the daughter.
    Case2.
    mos45,X/46,XX/47,XXX, the mother of case 1.
    Index Terms: Turner syndrome
  • Azouz E M, Chen M F, Khalife S, Cartier L, Eydoux P.: New form of bone dysplasia with multiple fractures associated with monosomy X. AJMG 66:163-168, 1996. [PubMed: 8958323]
    The 20-week old fetus showed evidence of short-limb dwarfism, osteoporosis, bent bones, multiple fractures, and submetaphyseal bone interruptions. Mother was 30 years old and the gravida-1 pregnancy was terminated.
    Index Terms: Bone dysplasia,Short-limb dwarfism
  • Baccichetti C, Artifoni L, Bernardi F, Bortotto L, Caufin D, Chiaffone G, Dalla Fior T, Lenzini E, Pecile V, Raho L.: X chromosome anomalies and Turner syndrome: an analysis of data in the human cytogenetic registry of north-east Italy. Ital. J. Pediat. 17:312-314, 1991.
    139 patients were studied.
    It is stressed that all prepubertal girls with height of less than 3rd %ile should be karyotyped.
  • Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The European working group.: Turner syndrome: evaluation of prenatal diagnosis in 19 European registries. AJMG 129A:16-20, 2004. [PubMed: 15266609]
  • Baiget M, Tizzano E, Volpini V, del Rio E, Perez-Vidal T, Gallano P: DMD carrier detection in a female with mosaic Turner''s syndrome. J. Med. Genet. 28:209-210, 1991. [PMC free article: PMC1016809] [PubMed: 2051460]
    mos45,X(80%)/46,XX(20%).
    MIM#: 310200
  • Banes S L, Begleiter M L, Butler M G.: 45,X/46,XY mosaicism and fragile X syndrome. AJMG DOI=10.1002/ajmg.a.10006; 116A:99-100, 2003. [PubMed: 12476462]
    Proband was a 4.5 year-old referred because of developmental delay and a history of a maternal half-sister with fragile X syndrome.
    mos45,X[4]/46,XY[46].
    Routine fragile X molecular testing identified a full mutation in the FMR1 gene.
  • Baron J, Miedzianowski J: Zwei Schwangerschaften bei einer patientin mit Turner-syndrom. Z. Klin. Med. 44:2019-2020, 1989.
    Fertility in a patient is reported.
    Index Terms: Fertility
  • Bastianon V, Pasquino A M, Giglioni E, Bosco G, Tebaldi L, Cives C, Colloridi V: Mitral valve prolapse in Turner syndrome. Europ. J. Ped. 148:533-534, 1989. [PubMed: 2663510]
    Index Terms: Mitral valve prolapse in TS
  • Same entry as in 0Yq120 (Batstone P J et al, 1991).

  • Bender B G, Fry E, Pennington B, Puck M H, Salbenblatt J A, Robinson A: Speech and language development in 41 children with sex chromosome anomalies. Pediatrics 71:262-267, 1983. [PubMed: 6823432]
    Bender B G, Linden M G, Harmon R J.: Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities. AJMG 102:309-313, 2001. [PubMed: 11503155]
    Salbenblatt J A, Meyers D C, Bender B G, Linden M G, Robinson A: Gross and fine motor development in 45,X and 47,XXX girls. Pediatrics 84:678-682, 1989. [PubMed: 2780130]
    The 45,X women (n=8) demonstrated impairment in spatial thinking skills.
    Index Terms: Language deficit,Turner syndrome
  • Berch D B: Psychological aspects of Turner syndrome. Adolesc. Ped. Gynecol. 2:175-180, 1989.
  • Berger R, Relier J P, Salmon C, Minkowski A: X/XY mosaicism with short Y. Clin. Genet. 5:211-217, 1974. [PubMed: 4134782]
    45,X/46,XYq-.
  • Berry A C, Docherty Z: X-linked nystagmus and 45,X/46,XX mosaicism. AJMG 43:896, 1992. [PubMed: 1463522]
    Gutmann D H, Brooks M L, Emanuel B S, McDonald-McGinn D M, Zackai E H: Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. AJMG 39:167-169, 1991. [PubMed: 2063919]
    Five generation family is presented.
    mos46,XX[44 cells]/45,X[6 cells].
    The data suggest that non-syndromal X-linked congenital nystagmus is probably present in the family.
    Index Terms: Congenital nystagmus
  • Betts D R, Fear C N, Barby T, Seller M J: A 45,X/69,XXY fetus. Clin. Genet. 35:285-288, 1989. [PubMed: 2714016]
  • Betts P R, Butler G E, Donaldson M D C, Dunger D B, Johnston D I, Kelnar C J H, Kirk J, Price D A, Wilton P, the UK KIGS Executive Group on behalf of the participating centres.: Arch. Dis. Childhood 80:221-225 1999, [PMC free article: PMC1717849] [PubMed: 10325700]
    Treatment initiation before puberty helps final height increase.
    Index Terms: Growth hormone treatment
  • Same entry as in 0Yq111 (Beverstock G C et al, 1989).

  • Birkebaek N H, Cruger D, Hansen J, Bruun-Petersen G.: Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin. Genet. 61:35-39, 2002. [PubMed: 11903353]
    Cruger D G, Bruun-Petersen G, Kolvraa S.: Turner''s syndrome 45,X found by coelocentesis. Prenat. Diag. 17:588-589, 1997. [PubMed: 9203221]
    Pregnancy was being terminated for psychological reasons at 9.3 weeks of gestation.
    The pregnancy rate was found to be higher in TS than reported before. A total of 412 women were studied.
    Index Terms: Coelocentesis,Pregnancy in TS
  • Same entry as in 0Yp110 (Blagowidow N et al, 1989).

  • Same entry as in 03p110 (Blanco B et al, 1994).

  • Bodri D, Vernaeve V, Figueras F, Vidal R, Guillen J J, Coll O.: Oocyte donation in patients with Turner''s syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Hum. Reprod. 21: 829-832, 2006. [PubMed: 16311294]
    30 00cyte donation cycles with fresh embryo transfer were performed in 21 TS patients (mean age 33.1 years).
    TS patients achieved acceptable pregnancy rates.
    Index Terms: Oocyte donation in TS
  • Bonakdar M I, Peisner D B: Gonadoblastoma with a 45,XO karyotype. Obst. Gynecol. 56:748-750, 1980. [PubMed: 7443119]
    Index Terms: Gonadoblastoma in Turner syndrome
  • Bonamico M, Bottaro G, Pasquino A M, Caruso-Nicoletti M, Mariani P, Gemme G, Paradiso E, Ragusa M C, Spina M.: Celiac disease and Turner syndrome. J. Pediat. Gastroentr. Nutr. 26:496-499, 1998. [PubMed: 9586758]
    37 girls with TS were studied.
    The age range was 2-27 years, with median age 13.8 years.
    The study suggested that celiac disease can be associated with TS and even responsible for a failure of growth hormone therapy.
    MIM#: 212750
    Index Terms: Celiac Disease,Growth hormone therapy failure in TS
  • Borgaonkar D S: 2008.
    While playing golf, I found a lost ball on the course with the marking ''Foundation for Turner Syndrome-The Chain of Love''.,What a way to make people aware.
  • Bortolini E R, da Silva D M, Chequer R S, Vianna-Morgante A M, Zatz M: Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution. AJMG 25:239-243, 1986. [PubMed: 3777022]
    Index Terms: Muscular dystrophy ... Duchenne in Turner syndrome
  • Bosze P, Magyar E, Toth A, Laszlo J: 45,X streak gonad syndrome associated with bilateral ''burnt out'' gonadoblastoma. Gynecol. Obstet. Invest. 28:113-117, 1989. [PubMed: 2680804]
    Patient Zs.I.
    Patient was referred for infertility and amenorrhea.
    Index Terms: Gonadoblastoma
  • Brook C G D: Turner syndrome. Arch. Dis. Childhood 61:305-309, 1986. [PMC free article: PMC1777698] [PubMed: 3963878]
  • Same entry as in 21+ (Broustet et al, 1975).

  • Brun J-L, Gangbo F, Wen Z Q, Galant K, Taine L, Maugey-Laulom B, Roux D, Mangione R, Horovitz J, Saura R.: Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases. Prenat. Diag. 24:213-218, 2004. [PubMed: 15057956]
    41 fetuses were identified, main indication was abnormal ultrasound. The termination rate was 93%.
  • Bryke C R, Mahoney M J, Yang-Feng T L: Antenatal diagnosis of 45,X/48,XYYY. AJMG 34:207-210, 1989. [PubMed: 2816999]
    mos45,X/48,XYYY.
    The fetus had ambiguous external genitalia, a horseshoe kidney, a cerebral cortical cyst and arachnodactyly.
  • Same entry as in 0Yq120 (Butler et al, 1986).

  • Buyukgebiz A, Oren H, Unsal E, Akcoral A, Ozen E, Sakizli M: A case of mixed gonadal dysgenesis with 45,X/46,XY karyotype and aortic coarctation. J. Pediat. Endocrin. 6:191-196, 1993. [PubMed: 8348224]
    mos45,X/46,XY
    The 8 month old patient with MCA and ambiguous genitalia was raised as a female.
    Index Terms: Aortic coarctation,Mixed gonadal dysgenesis
  • Byrne J, Warburton D, Kline J, Blanc W, Stein Z: Morphology of early fetal deaths and their chromosomal characteristics. Teratology 32:297-315, 1985. [PubMed: 4049288]
  • Caine A, Mason G, Daly H A, Ricketts S M: An unusual tricentric X chromosome detected prenatally. Prenat. Diag. 13:1061-1065, 1993. [PubMed: 8140070]
    mos45/46,X,tri(X)/47,X,tri(X),+r.
    Ultrasound scan demonstrated an isolated large left-sided pleural effusion (PE) with marked mediastinal shift. Pregnancy was terminated.
    Index Terms: Tricentric
  • Same entry as in 07q113 (Canki and Dutrillaux, 1979).

  • Canki N, Warburton D, Byrne J: Morphological characteristics of monosomy X in spontaneous abortions. Ann. Genet. 31:4-13, 1988. [PubMed: 3281569]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Carel J C, Mathivon L, Gendrel C, Chaussain J L.: Growth hormone therapy for Turner syndrome: evidence for benefit. Horm. Res. 48(suppl. 5):31-34, 1997. [PubMed: 9434042]
    Donaldson M D C.: Growth hormone therapy in Turner syndrome-current uncertainties and future strategies. Horm. Res. 48(suppl. 5):35-44, 1997. [PubMed: 9434043]
    Index Terms: Growth Hormone Therapy in Turner syndrome
  • Carlson M, Silberbach M.: Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. J. Med. Genet. 44: 745-749, 2007. [PMC free article: PMC2652808] [PubMed: 17873120]
    Both patients ages died soon after presentation. 85 cases of aortic dissection in TS were reported between 1961 and 2006. Dissection occurred at 30.7 (range 4-64) years. A TS aortic dissection registry has been established www.tssus.org/readweb.asp?wid=3092).
    Index Terms: Aorta in Turner syndrome
  • Carr R F, Ochs R H, Ritter D A, Kenny J D, Fridey J L, Ming P L: Fetal cystic hygroma and Turner''s syndrome. AJDC 140:580-583, 1986. [PubMed: 3706240]
    Two of the five cases had 45,X; and both had generalized edema, cystic hygroma. Two had normal karyotypes and one was trisomy 21.
    Cases 1 and 5:45,X.
    Index Terms: Cystic hygroma,Trisomy 21
  • Causio F, Fischetto R, Sarcina E, Geusa S, Tartagni M.: Chromosome analysis of spontaneous abortions after in vitro fertization (IVF) and intracytoplasmic sperm injection (ICSI). Europ. J. Obstet. Gynecol. Reprod. Biol. 105:44-48, 2002. [PubMed: 12270564]
    35 cases of IVF and 29 of ICSI were studied.
    45,X was the most common anomaly.
    15/35 (43%) IVF abortions and 14/29(48%) ICSI abortions, respectively, have shown a chromosomal abnormality.
    Index Terms: ICSI,IVF
  • Chang H J, Clark R D, Bachman H: The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. AJHG 45:156-167, 1990. [PMC free article: PMC1683543] [PubMed: 2294747]
    92 cases are reviewed.
    mos45,X/46,XY.
    It is concluded that 95% of 45,X/46,XY fetuses will have normal genitalia, and a significant risk (27%) for abnormal gonadal histology.
  • Same entry as in 12q240 (Chen et al, 1978).

  • Chen H, Faigenbaum D, Weiss H: Psychosocial aspects of patients with the Ulrich-Turner syndrome. AJMG 8:191-203, 1981. [PubMed: 7282773]
  • Chitayat D, Kalousek D K, Bamforth J S: Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. AJMG 33:352-356, 1989. [PubMed: 2801770]
    Differentiating characteristics were described in cases with cystic hygroma and with karyotypes 45,X; +13; +21 and some other conditions.
    Index Terms: Cystic hygroma
  • Same entry as in 13+ (Chitty, 1995).

  • Christian S M, Koehn D, Pillay R, MacDougall A, Wilson R D.: Parental decision following prenatal diagnosis of sex chromosome aneuploidy: a trend over time. Prenat. Diag. 20:37-40, 2000. [PubMed: 10701849]
    Evans M I, Sobiecki M A, Krivchenia E L, Duquette D A, Drugan A, Hume R F, Jr, Johnson M P.: Parental decisions to terminate/continue following abnormal cytogenetic prenatal diagnosis: "what" is still more important than "when". AJMG 61:353-355, 1996. [PubMed: 8834047]
    It would be of interest to visit these families, ie those who continued their pregnancises, and have a follow-up on the SCA patients and their parent''s reaction to the decisions they made decades ago!
  • Chu C E, Connor J M, Donaldson M D C, Kelnar C J H, Smail P J, Greene S A.: Detection of mosaicism in patients with Turner''s syndrome. J. Med. Genet. 32:578-580, 1995. [PMC free article: PMC1050562] [PubMed: 7562979]
    An interesting and useful study!

    Chu C E, Connor J M.: Molecular biology of Turner''s syndrome. Arch. Dis. Childhood 72:285-286, 1995. [PMC free article: PMC1511250] [PubMed: 7763055]
    A good review!

    Chu C E, Donaldson M D C, Kelnar C J H, Smail P J, Greene S A, Paterson W F, Connor J M.: Possible role of imprinting in the Turner phenotype. J. Med. Genet. 31:840-842, 1994. [PMC free article: PMC1016655] [PubMed: 7853366]
    Imprinting may play a role with respect to height, cardiovascular anomalies and neck webbing.

    Connor J M: Prenatal diagnosis of the Turner syndrome: what to tell the parents. BMJ 293:711-712, 1986. [PMC free article: PMC1341440] [PubMed: 3094621]
    Connor J M, Loughlin S A R: Molecular genetics of Turner''s syndrome. Acta Paed. Scand. Suppl. 356:77-80, 1989. [PubMed: 2573230]
    Index Terms: Mosaicism,Imprinting in Turner syndrome
  • Clark E B: Neck webb and congenital heart defects: a pathogenic association in 45 X-0 Turner syndrome? Teratology 29:355-361, 1984. [PubMed: 6463900]
    Index Terms: Congenital heart defects (cardiovascular anomalies),Neck ... webbed,Turner syndrome
  • Claussen U, Ulmer R, Beinder E, Voigt H J: Six years'' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype. Prenat. Diag. 14:113-121, 1994. [PubMed: 8183848]
    20/804 cases.,Anomalies included polyhydramnios, oligohydramnios, growth retardation, fetal effusions, neural tube defects, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects.
    Index Terms: Polyhydramnios,Oligohydramnios,Gastroschisis,Omphalocele
  • Cockwell A, MacKenzie M, Youings S, Jacobs P A: A cytogenetic and molecular study of a series of 45,X fetuses and their parents. J. Med. Genet. 28:151-155, 1991. [PMC free article: PMC1016795] [PubMed: 1675683]
    Jacobs P, Dalton P, James R, Mosse K, Power M, Robinson D, Skuse D.: Turner syndrome: a cytogenetic and molecular study. Ann. Hum. Genet. 61:471-483, 1997. [PubMed: 9543547]
    Swerdlow A J, Hermon C, Jacobs P A, Alberman E, Beral V, Daker M, Fordyce A, Youings S.: Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann. Hum. Genet. 65:177-188, 2001. [PubMed: 11427177]
    Swerdlow et al found that 62/400 patients died with a relative risk of 4.16. Deaths were from diseases of the nervous, cardiovascular, respiratory, digestive and genitourinary systems.
    Mother of ID No. 89/1258 was 47,XXX.
    Ten fetuses were studied.
    Source of nondisjunction and other anomalies has been studied.In six, the single X was maternal in origin and in one it was paternal(1991 study).,In the 1997 study, the authors studied 211 patients. In 74% of the 45,X patients(n=97), the X was of maternal in origin. Absence of pairing in the XY bivalent during paternal meiosis I is the suspected cause.
  • Coco R, Bergada C: Cytogenetic findings in 125 patients with Turner''s syndrome and abnormal karyotypes. J. Genet. Hum. 25:95-107, 1977. [PubMed: 915489]
    45,X; 46,X,r(X); 46,X,del(Xq-); 46,X,del(Xp-) and 45,X/46,XY karyotypes were found.
  • Same entry as in 0X0000 (Cohen et al, 1992).

  • Cohen D, Bragos I, Berta C, Fodor M, Alonso E, Nasio C, Kreiman L, Pineda R: Rapid karyotyping in ectopic pregnancies. Prenat. Diag. 13:349-353, 1993. [PubMed: 8341632]
    78 ectopic Fallopian tube pregnancies during 1987-1991 were studied.
    13 pregnancies were found to be 45,X.
    Index Terms: Ectopic pregnancies
  • Same entry as in 0Xp000 (Cole H et al, 1994).

  • Same entry as in 0X0000 (Collins A L et al, 1994).

  • Committee on Genetics.: Health supervision for children with Turner syndrome. Pediatrics 96:1166-1173, 1995. [PubMed: 7491246]
    We need this sort of document on several other conditions and this is a good beginning.
    Index Terms: Health supervision
  • Cooley M, Bakalov V, Bondy C A.: Lipid profiles in women with 45,X vs 46,XX primary ovarian failure. JAMA 290:2127-2128, 2003. [PubMed: 14570947]
    It was found that healthy, young, nonobese women with TS exhibit an atherogenic lipid profile.
    Index Terms: CHD in Turner syndrome
  • Same entry as in 0Xp100,0Yp110 (Cooper C et al, 1991).

  • Same entry as in 21+ (Costa et al, 1995).

  • Costa T, Lambert M, Teshima I, Ray P N, Richer C L, Dallaire L.: Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex. AJMG 75:40-44, 1998. [PubMed: 9450855]
    Families A and B:
    Both sets of twins showed mosaicism in lymphocyte cultures but skin fibroblasts showed variable cell lines=mos45,X/46,XY
    A mitotic error prior to but accompanying or following twinning would lead to such combinations of findings.
    Index Terms: MZ twins in UTS, discordant for sex
  • Coto E, Toral J F, Menendez M J, Hernando I, Plasencia A, Benavides A, Lopez-Larrea C.: PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome. AJMG 57:393-396, 1995. [PubMed: 7677140]
    18 patients with UTS were studied.
    45,X; and mos45,X/45,X,+mar.
    11/18 patients were found to have a positive amplification for at least one Y sequence. This is important in view of the risks for gonadoblastoma, virilization, and renal anomalies.
    Index Terms: Y-chromosome sequences
  • Same entry as in 0Xp000 (Crolla et al, 1988).

  • Cunniff C, Hassed S J, Hendon A E, Rickert V I.: Health care utilization and perceptions of health among adolescents and adults with Turner syndrome. Clin. Genet. 48:17-22, 1995. [PubMed: 7586639]
    12 patients were studied. They had good adjustments but higher utilization rate.
  • Cunniff C, Jones K L, Benirschke K: Ovarian dysgenesis in individuals with chromosomal abnormalities Hum. Genet. 86:552-556, 1991. [PubMed: 2026420]
    mos45,X/46,XX (one case only).
    All four had numerous other associated malformations.
  • Dacou-Voutetakis C, Karavanaki-Karanassiou K, Petrou V, Georgopoulos N, Maniati-Christidi M, Mavrou A.: The growth pattern and final height of girls with Turner syndrome with and without human growth hormone treatment. Pediatrics 101:663-668, 1998. [PubMed: 9521953]
    The growth was accelerated but did not alter the final height.

    Tsezou A, Hadjiathanasiou Ch, Gourgiotis D, Galla A, Kavazarakis Em, Pasparaki A, Kapsetaki M, Sismani C, Theodoridis Ch, Patsalis P C, Moschonas N, Kitsiou S.: Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy. Clin. Genet. 56:441-446, 1999. [PubMed: 10665663]
    Tsezou et al studied 33 Greek children with TS.
    Index Terms: Height in TS,Growth hormone treatment
  • Dailey T, Dale B, Cohen J, Munne S.: Association between nondisjunction and maternal age in meiosis-II human oocytes. AJHG 59:176-184, 1996. [PMC free article: PMC1915131] [PubMed: 8659524]
    Munn+¬ S, Magli C, Bahce M, Fung J, Legator M, Morrison L, Cohert J, Gianaroli L.: Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat. Diag. 18:1459-1466, 1998. [PubMed: 9949446]
    Munne S, Lee A, Rosenwaks Z, Grifo J, Cohen J: Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum. Reprod. 8:2185-2191, 1993. [PubMed: 8150922]
    Index Terms: Embryos ... preimplantation
  • Darby B G: Resolution of cystic hygroma. Prenat. Diag. 9:447, 1989. [PubMed: 2668918]
    Index Terms: Cystic hygroma
  • Deckert J, Strik W K, Fritze J: Organic schizophrenic syndrome associated with symmetrical basal ganglia sclerosis and XO/XY mosaic. Biol. Psychiat. 31:401-403, 1992. [PubMed: 1558902]
    Patient Mr. H.
    mos45,X(10%)/46,XY(90%)-Blood culture.
    Patient is now 26 years old.
    Index Terms: Schizophrenia,Basal ganglia,Sclerosis
  • Demetriou E, Emans J, Crigler J F: Final height in Estrogen-treated patients with Turner syndrome. Obst. Gynecol. 64:459-464, 1984. [PubMed: 6091005]
  • Same entry as in 0Xp000 (Dennis et al, 1993).

  • Devi A S, Metzger D A, Luciano A A, Benn P A.: 45,X/46,XX mosaicism in patients with idiopathic premature ovarian failure. Fert. Steril. 70:89-93, 1998. [PubMed: 9660427]
    15 women with POF, 20 age-matched controls, and older women were studied.
    Some cases of POF may be attributable to a low-level of mosaicism.
    MIM#: 311360
    Index Terms: Premature ovarian failure (POF)
  • DeVore G R.: The genetic sonogram: its use in the detection of chromosomal abnormalities in fetuses of women of advanced maternal age. Prenat. Diag. 21:40-45, 2001. [PubMed: 11180239]
    Platt L D, Korula S R, DeVore G R, Mishell D R, Jr: Altered fetal growth and development in a patient with Turner''s syndrome. Am. J. Perinat. 3:175-177, 1986. [PubMed: 3718636]
    Index Terms: Fetal growth in TS
  • Dewhurst J, Ferreira H P: Gonadoblastoma in a patient with gonadal dysgenesis without a Y chromosome. Obst. Gynecol. 59:247-249, 1982. [PubMed: 7078871]
    A 23 year old patient with 45,X/46,X,r(X) karyotype menstruated for 6 years before menopause occurred had gonadoblastoma in a rudimentary gonad.
    Index Terms: Gonadoblastoma Menopause in Turner syndrome
  • Dewhurst J: Fertility in 47,XXX and 45,X patients. J. Med. Genet. 15:132-135, 1978. [PMC free article: PMC1013662] [PubMed: 641947]
    There is an increased risk of a cytogenetically abnormal child, it is probably lower in non-mosaic 47,XXX patient than the mosaic 46,XX/47,XXX. 45,X patients rarely become pregnant and when they do they appear to have a high risk of an abnormal child or repeated unsuccessful pregnancies.
    Index Terms: Fertility ... in Turner syndrome
  • Dinkelmann F, Landolt R F: Fertilitat bei Turner-syndrome. Schweiz. Med. Wschr. 111:572-574, 1981. [PubMed: 7233136]
    mos 45,X/47,XXX.,Aplasia of the right kidney and uterus bicornis were found. Two pregnancies resulting in normal children are reported.
    Index Terms: Kidney ... malformations,Turner syndrome,Uterus ... bicornis
  • Disteche C M, Brown L, Saal H, Friedman C, Thuline H C, Hoar D I, Pagon R A, Page D C: "Molecular detection of a translocation (Y;15) in a 45,X male." Hum. Genet. 74:372-377, 1986. [PubMed: 3793100]
    Patient J. A. showed 45,X karyotype but on molecular studies showed a t(Y;15) translocation on the short arms.
    45,X,t(Y;15).
  • Dombrowski M P, Berry S M, Isada N B, Jones T B, Evans M I: Abnormal second-trimester ultrasounds: an indication for karyotype. Fetal Diag. Ther. 8:10-14, 1993. [PubMed: 8452645]
    2,823 singleton, viable fetuses were studied.
    Six cases of 45,X were found to be associated with cardiac (2), gastrointestinal (2), cystic hygroma (2), bladder (1), and renal (1) anomalies.
    Index Terms: Cystic hygroma
  • Downey J, Ehrhardt A A, Gruen R, Bell J J, Morishima A: Psychopathology and social functioning in women with Turner syndrome. J. Nerv. Ment. Dis. 177:191-201, 1989. [PubMed: 2703824]
  • Dzenis I G, Antipina N N: An uncommon phenotypical variant in the Shereshevsky-Turner syndrome. Hum. Genet. 52:275-279, 1979. [PubMed: 535888]
    Variable karyotypes were found in leucocyte cultures (45,X/46,XXp-;46,XXp-;45,X/46,XX/47,XXX) in patients with spontaneous menstrual periods resembling juvenile bleedings.
    Index Terms: Shereshevsky-Turner syndrome
  • Ehrhardt A A, Greenberg N, Money J W: Female gender identity and absence of fetal gonadal hormones: Turner''s syndrome. Johns Hopk. Med. J. 126:237-248, 1970. [PubMed: 4911705]
  • El Abd S, Patton M A, Turk J, Hoey H, Howlin P.: Social, communicational, and behavioral deficits associated with the ring X Turner syndrome. AJMG (Neuropsychiat. Genet.) 88:510-516, 1999. [PubMed: 10490708]
    Five cases are presented.
    All five are mos45,X/46,X,r(X) with early replicating r(X) and small in size.
    All five had a characteristic profile of aggression toward self and others, episodes of screaming, attentional problems, and impulsiveness. Autistic-like features were also present and included limited communication, obsessive compulsive behavior, and social difficulties.
  • El Abd S, Wilson L, Howlin P, Patton M A, Wintgens A M, Wilson R.: Agenesis of the corpus callosum in Turner syndrome with ring X. Develop. Med. Child Neurol. 39:119-124, 1997. [PubMed: 9062427]
    mos45,X/46,X,r(X)
    The 8 year and 10 month old girl was found to have agenesis of the corpus callosum and various other characteristics including ''kabuki make-up'' facial features and mild learning disability.
    Dr. El Abd writes in a letter dated June 10, 1997 "we had another patient who also had a ring X Turner syndrome and total agenesis of the corpus callosum".
    Index Terms: Agenesis of the corpus callosum
  • Ellison J W, Wardak Z, Young M F, Robey P G, Laig-Webster M, Chiong W.: PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum. Mol. Genet. 6:1341-1347, 1997. [PubMed: 9259282]
    Index Terms: PHOG
  • Elsheikh M, Conway G S, wass J A H.: Medical problems in adult women with Turner''s syndrome. Ann. Med. 31:99-105, 1999. [PubMed: 10344581]
  • Emmanuel C, Chertan K M, Gopinath P M, Kulkarni S, Chandra N, Ramesh A.: An uncommon congenital cardiovascular malformation with Turner syndrome - a case report. Int. J. Hum. Genet. 4:71-73, 2004.
    Patient YAR:
    45,X,16qh+
    The newborn had stigamta of TS. EKG revealed right ventricular hypertrophy. Transthoracic echocardiography revealed transposition of great vessels with intact ventricular septum, small PDA and ASD.
    Index Terms: Transposition of great arteries (TGA)
  • Farina A, Sekizawa A, Ralston S J, D''Alton M E, Bianchi D W.: Latent class analysis applied to patterns of fetal sonographic abnormalities: definition of phenotypes associated with aneuploidy. Prenat. Diag. 19:840-845, 1999. [PubMed: 10521842]
    Eleven cases were studied.
    Among 40 fetal malformations and/or sonographic markers, the most important findings in generating specific karyotypic groups were cystic hygroma (class 1), duodenal atresia (class 2), holoprosencephaly (class3), and omphalocele (class 4), respectively. Accuracy of the classification was 72 per cent for Turner syndrome (class 1).
    Index Terms: Latent class analysis
  • Fejgin M D, Arbel-DeRowe Y, Shul N, Amiel A.: A false-positive diagnosis of Turner syndrome by amniocentesis. Prenat. Diag. 17:88-89, 1997. [PubMed: 9021835]
    Fejgin et al discuss a case of mos47,XXY/46,XY with similar circumstances.

    Griffiths M J, Miller P R, Stibbe H M.: A false-positive diagnosis of Turner syndrome by amniocentesis. Prenat. Diag. 16:463-466, 1996. [PubMed: 8844007]
    Kalousek D K, Barrett I J, Lestou V S.: Misconceptions about mosaicism. Prenat. Diag. 17:888-889, 1997. [PubMed: 9316142]
    Kalousek et al have some comments on the case of Fejgin et al.
    Only 45,X cells were found in the amniotic fluid culture preparations. Following termination only 46,XX cells were found in all the tissues examined. The most likely explanation is that of a dizygotic twin pregnancy.
    Index Terms: Twins,False-positive diagnosis
  • Same entry as in 18+ (Ferencz C et al, 1989).

  • Ferguson-Smith M A, Alexander D S, Bowen P, Goodman R M, Kaufmann B N, Jones H W, Heller R H: Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner''s syndrome. Cytogenetics 3:355-383, 1964. [PubMed: 14267131]
    Index Terms: Gonadal dysgenesis,Turner syndrome
  • Fern+índez-Garcia R, Garc+¡a-Doval S, Costoya S, P+ísaro E.: Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ''hidden'' mosaicism. Clin. Genet. 58:201-208, 2000. [PubMed: 11076042]
    Fernandez R, Mendez J, Pasaro E.: Turner syndrome: a study of chromosomal mosaicism. Hum. Genet. 98:29-35, 1996. [PubMed: 8682502]
    The authors support the hypothesis of ''the necessity of mosaicism for survival'', and thus, a mitotic origin for this syndrome.
    25 patients with 46,XX cell line were studied.
    FISH and PCR techniques were used. The most frequent mosaics were 45,X/46,XX (36%); with isochromosomes (24%); with fragments (12%).
    Index Terms: Mosaicism
  • Fonda Allen J S, Mulhauser L C.: Genetic counseling after abnormal prenatal diagnosis: facilitating coping in families who continue their pregnancies. J. Genet. Counsel. 4:251-265, 1995. [PubMed: 11655081]
    Case 1, HG, was 40 years old.
    CVS=mos45,X/47,XXX at 14.5 weeks, and one cell was 46,XX.,Blood after birth=mos45,X/47,XXX/46,XX(high %).
    Turner stigmata were absent.
  • Forabosco A, Carratu A, Assuma M, De Pol A, Dutrillaux B, Cheli E: Male with 45,X karyotype. Clin. Genet. 12:97-100, 1977. [PubMed: 891018]
    Maserati E, Waibel F, Weber B, Fraccaro M, Gal A, Pasquali F, Schempp W, Scherer G, Vaccaro R, Weissenbach J, Wolf U: A 45,X male with a Yp/18 translocation. Hum. Genet. 74:126-132, 1986. [PubMed: 2876945]
    Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G, Forabosco A.: Genes and translocations involved in POF. AJMG DOI=10.1002/ajmg.10565; 111:328-333, 2002. [PubMed: 12210333]
    Molecular studies showed that there was a translocation between chromosomes Y and 18.
    45,X,t(Y;18).
    Patient G. C., 020474.
    Also see Bardoni et al., (1991) under 0Yq110.
    Index Terms: Turner syndrome
  • Ford C E, Jones K W, Polani P E, de Almeida J C C, Briggs J H: A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner''s syndrome). Lancet 1:711-713, 1959. [PubMed: 13642858]
    45,X was first described in this report.
    Index Terms: Gonadal dysgenesis,Turner syndrome
  • Ford C E, Polani P E, Briggs J H, Bishop P M F: A presumptive human XXY/XX mosaic. Nature 183:1030-1032, 1959. [PubMed: 13644275]
    In an addendum to the paper the authors cited a single case of Turner syndrome as having 45 chromosomes, was chromatin negative, and XO constitution.
  • Same entry as in 0X0000 (Friedrich U et al, 1991).

  • Same entry as in 0Xp213 (Fryns J P et al, 1988).

  • Same entry as in 0Xp000,0Xq000 (Gaal et al, 1974).

  • Gal A, Weber B, Neri G, Serra A, Muller U, Schempp W, Page D C: A 45,X male with Y-specific DNA translocated onto chromosome 15. AJHG 40:477-488, 1987. [PMC free article: PMC1684161] [PubMed: 3473936]
    Schempp W, Weber B, Serra A, Neri G, Gal A, Wolf U: A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15. Hum. Genet. 71:150-154, 1985. [PubMed: 4043963]
    Patient P.C. was 20 years old with testes and normal external genitalia.
    45,X,-15,+der(15),t(Y;15)(Ypter -> Yq11.2F::15p12 -> 15qter).
    Chromosomal Aneuploidy: Yq-
  • Ganshirt-Ahlert D, Pawlowitzki I H, Gal A: Three cases of 45,X/46,XYnf mosaicism. Molecular analysis revealed heterogeneity of the non-fluorescent Y chromosome. Hum. Genet. 76:153-156, 1987. [PubMed: 2886420]
  • Garden A S, Benzie R J, Miskin M, Gardner H A: Fetal cystic hygroma colli: antenatal diagnosis, significance, and management. Am. J. Obst. Gynecol. 154:221-225, 1986. [PubMed: 3511710]
    24 cases of fetal cystic hygroma colli, diagnosed by ultrasound, are reported.
    45,X and mos45,X/46,XX.
    Index Terms: Cystic hygroma
  • Geerkens C, Just W, Held K R, Vogel W.: Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X. Hum. Genet. 97: 39-44, 1996. [PubMed: 8557258]
    Fibroblasts of four patients with 46,X,i(Xq) and two 45,X patients were found to have increased levels of RPS4X mRNA.
    Index Terms: RPS4X mRNA
  • Same entry as in 0Y0000 (Gemmill et al, 1987).

  • Gemzell C, Solish G I: Induction of ovulation and pregnancy in a woman with sex chromosmal mosaicism 45,X/46,XX/47,XXX. Am. J. Obst. Gynecol. 134:599-600, 1979. [PubMed: 453300]
    Patient B. T. a 32 year old gave birth to normal twins, a male and a female.
    Index Terms: Pregnancy ... in Turner syndrome
  • Same entry as in 16q110 (Genest and Pouliot, 1979).

  • Same entry as in Triploidy (Genest et al, 1995).

  • Gicquel C, Cabrol S, Schneid H, Girard F, Le Bouc Y: Molecular diagnosis of Turner''s syndrome. J. Med. Genet. 29:547-551, 1992. [PMC free article: PMC1016059] [PubMed: 1355559]
    45,X--29 patients.&mos45,X/46,XX--4 patients.&46,X,i(Xq)--1 patient.&mos45,X/46,X,i(Xq)--4 patients.&mos45,X/46,x,r(X)--4 patients.&mos45,X/46,XY--4 patients.&46,X,del(Xp-)--3 patients.
  • Gilboa Y, Rosenberg T: Typical Turner''s syndrome with 45XO karyotype and normal menstruation. Cytogenetic and histologic findings. Helv. Paediat. Acta 30:281-288, 1975. [PubMed: 1237481]
    Case B.M.A. (No. 41918) in this report.
    45,X karyotype was found in lymphocytes, skin fibroblasts and ovarian cells. A normal sexual development was found. It is suggested that such patients be counseled "to become pregnant early."
    Index Terms: Menstruation in Turner syndrome
  • Same entry as in 0Yq120 (Gil R et al, 1991).

  • Golden W L, Schneider B F, Gustashaw K M, Jassani M N: Prenatal diagnosis of Turner syndrome using cells cultured from cystic hygromas in two pregnancies with normal maternal serum alpha-fetoprotein. Prenat. Diag. 9:683-689, 1989. [PubMed: 2480588]
    Index Terms: Cystic hygroma,MSAFP
  • Gole L A, Anandakumar C, Bongso A, Chua T M, Wong Y C, Ratnam S S.: Analysis of cystic hygroma, ascitic, and pleural fluids by conventional lymphocyte culture and flurescent in situ hybridization. Prenat. Diag. 17:1151-1157, 1997. [PubMed: 9467813]
    2/14 fluids showed a 45,X karyotype.
    Index Terms: Cystic hygroma,Ascitic fluid,Pleural fluid
  • Same entry as in 47,XXX (Gollop et al, 1992).

  • Goroshchenko G L, Savitsky G A, Bresler V M, Fedortseva R F: The karyotype and histological changes under the anomalous development of gonads in man. II. True hermaphroditism. Cytologia (USSR) 10:1162-1170, 1978. [PubMed: 4304983]
    Hypoplasia of testis and ovary was found in this patient.,Interesting report of two chromosomal abnormalities in one patient, that of aneuploidy and a Robertsonian translocation. Patient was unavailable for studies with banding techniques (Goroshchenko, Personal communication, 1978).,mos 44,X,t(DqDq)/45,XY,t(DqDq).
    Index Terms: Hermaphrodism ... true,Testes ... hypoplasia (tic) (small)
  • Govaerts L C P, Bongers M Y, Lammens M M Y, Tuerlings J H A M, Van de Kaa, C A.: Monosomy X and omphaocele. Prenat. Diag. 17:282, 1997. [PubMed: 9110374]
    Pregnancy terminated at 22 weeks after detection of hydrops fetalis, large posterior nuchal multiloculated cystic hygroma, pleural effusions, ventral wall defect, polyhydramnios and omphalocele.
    Index Terms: Omphalocele
  • Gravholt C H, Juul S, Naeraa R W, Hansen J.: Prenatal and postnatal prevalence of Turner''s syndrome: a registry study. BMJ 312: 16-21, 1996. [PMC free article: PMC2349728] [PubMed: 8555850]
    Gravholt C H.: Author''s reply. BMJ 312:1100-1101, 1996.
    Hahnemann J M.: No reason to doubt standard of prenatal diagnosis. BMJ 312:1100, 1996. [PMC free article: PMC2350879] [PubMed: 8616438]
    Lundsteen C, Nielsen K B, Jensen P K A, Petersen G B, Rasmussen K. : No scientific evidence for study''s conclusions. BMJ 312:1100, 1996. [PMC free article: PMC2350887] [PubMed: 8616437]
  • Same entry as in 0Xp100 (Grompe M et al, 1992).

  • Gungor N, Boke B, Belgin E, Tuncbilek E.: High frequency hearing loss in Ullrich-Turner syndrome. Europ. J. Pediat. 159:740-744, 2000. [PubMed: 11039128]
    38 patients with TS were studied.
    26 had a history of middle ear infections, and ten required otolaryngological surgery.
    Index Terms: Hearing loss in TS
  • Same entry as in 47,XXX (Guzman-Toledano et al, 1976).

  • Haeusler M C H, Ryan G, Sams V, Robson S C, Young M, Sullivan I D, Lipitz S, Rodeck C H: Unusual lymphangioma observed prenatally in a 45,X fetus. AJMG 45:508-510, 1993. [PubMed: 8465859]
    Antenatally the lesion was suspected to be a cephalocele but postmortem examination proved this to be a lymphangioma. The fetus was found to have a cardiac defect as well.
    Index Terms: Lymphangioma
  • Same entry as in 18+ (Halliday et al, 1994).

  • Hall S, Abramsky L, Marteau T M.: Health professionals'' reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: a pilot study. Prenat. Diag. 23:535-538, 2003. [PubMed: 12868077]
    Robinson A, Bender B G, Linden M G: Decisions following the intrauterine diagnosis of sex chromosome aneuploidy. AJMG 34:552-554, 1989. [PubMed: 2624268]
    Robinson A, Bender B G, Linden M G: Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. AJMG 44:365-368, 1992. [PubMed: 1488987]
  • Hanaki K, Ohzeki T, Ishitani N, Motozumi H, Matsuda-Ohtahara H, Shiraki K: Fat distribution in overweight patients with Ullrich-Turner syndrome. AJMG 42:428-430, 1992. [PubMed: 1609824]
    Ohzeki T, Hanaki K, Motozumi H, Ohtahara H, Urashima H, Shiraki K: Assessment of subcutaneous fat using ultrasonography in the Ullrich-Turner syndrome. AJMG 46:450-452, 1993. [PubMed: 8357020]
    Increased body weight in UTS children seems mainly to be due to excess of adipose tissue, not in the limbs but on the trunk, and/or due to the increment of lean body mass.,Subcutaneous fat in UTS patients is less in their arms than in girls without UTS and trunkal fatness is decreased in UTS. The ratio of lean body mass to weight seems higher in UTS patients than in girls with similar weight and height.
    Index Terms: Overweight,Adipose tissue,Subcutaneous fat
  • Harju M, Laine T, Alvesalo L: Occlusal anomalies in 45,X/46,XX- and 46,Xi(Xq)-women (Turner syndrome). Scand. J. Dent. Res. 97:387-391, 1989. [PubMed: 2617136]
    Townsend G, Jensen B L, Alvesalo L: Reduced tooth size in 45,X (Turner syndrome) females. Am. J. Phys. Anthro. 65:367-371, 1984. [PubMed: 6524618]
    14 women with 45,X/46,XX and 6 with 46,X,i(Xq) karyotypes were studied.
    45,X/46,XX.&46,X,i(Xq).
    It is hypothesized that enamel genes on the X-chromosome are involved in occlusal development.
    Index Terms: Turner syndrome,Occlusal anomalies
  • Hartling U B, Hansen B F, Keeling J W, Skovgaard L T, Kjaer I.: Short bi-iliac distance in prenatal Ullrich-Turner syndrome. AJMG DOI=10.1002/ajmg.10244; 108:290-294, 2002. [PubMed: 11920833]
    Kjaer I, Hansen B F.: Cervical ribs in fetuses with Ullrich-Turner syndrome. AJMG 71:219-221, 1997. [PubMed: 9217226]
    Hartling et al found that the outer and inner bi-iliac distances were significantly shorter in UTS (n=24) fetuses which also suggests a different growth pattern in them.
    9 fetuses with extensive neck hygroma were included in this study.
    The occurrence of unilateral or bilateral cervical ribs in UTS is useful characteristic of this condition.
    Index Terms: Ribs cervical
  • Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, Fukushima Y, Nakahori Y, Matsuo N.: Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Hum. Genet. 97:564-567, 1996. [PubMed: 8655131]
    Because of the unusual nature and the significance of the findings (potential), I have included this in my Catalog even though the patient has a ''normal'' karyotype.
    Index Terms: Turner/Noonan
  • Hasle H, Olsen J H, Nielsen J, Hansen J, Friedrich U, Tommerup N.: Occurrence of cancer in women with Turner syndrome. Brit. J. Cancer 73:1156-1159, 1996. [PMC free article: PMC2074404] [PubMed: 8624281]
    Index Terms: Cancer ... in TS
  • Hassold T J, Benham F, Leppert M: Cytogenetic and molecular analysis of sex-chromosome monosomy. AJHG 42:534-541, 1988. [PMC free article: PMC1715233] [PubMed: 2894760]
    Hassold T J, Pettay D, Robinson A, Uchida I A: Molecular studies of parental origin and mosaicism in 45,X conceptuses. Hum. Genet. 89:647-652, 1992. [PubMed: 1511983]
    28/40 were X(m) and 7/40 were X(p); 3/33 showed a presence of a Y or a second X; 5 were liveborn and 35 were spontaneously aborted 45,X conceptions.
    41 conceptuses were studied. The single X is mostly maternally derived.
  • Hauge W M, Adams J, Reeders S T, Jacobs H S: 45,X Turner''s syndrome in association with polycystic ovaries. Case report. Brit. J. Obst. Gynecol. 96:613-618, 1989. [PubMed: 2667634]
    MIM#: 184700
  • Same entry as in 0Yp110 (Hayek and Yunis, 1975).

  • Heinze H J: Ovarian function in adolescents with Turner syndrome. Adolesc. Pediat. Gynecol. 7:3-8, 1994.
    Index Terms: Ovarian ... function
  • Held K R: Turner''s syndrome and chromosome Y. Lancet 342:128-129, 1993. [PubMed: 8101248]
    Held K R, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde H W: Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum. Genet. 88:288-294, 1992. [PubMed: 1733830]
    91 patients were studied.
    Interesting commentary is provided in the 1993 paper about molecular approaches for determining subtle mosaicism of Y chromosome.
    Index Terms: Mosaicism
  • Henn W, Zang K D.: Mosaicism in Turner''s syndrome. Nature 390:569, 1997. [PubMed: 9403684]
    Scourfield J, McGuffin P, Thapar A.: Genes and social skills. Bioessays 19:1125-1127, 1997. [PubMed: 9423351]
    Skuse D, Jacobs P.: Reply Nature 390:569, 1997.
    Skuse D H, James R S, Bishop D V M, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, Creswell C, McGurk R, Jacobs P A.: Evidence from Turner''s syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705-708, 1997. [PubMed: 9192895]
    80 patients with 45,X and 8 patients with X deletions were studied.
    55 were found to be 45,Xm and 25 with 45,Xp derived. Members of 45,Xp group were better adjusted.
    Index Terms: Imprinting of X-linked locus affecting cognitive function
  • Hens L, Devroey P, Van Waesberghe L, Bonduelle M, Van Steirteghem A C, Liebaers I: Chromosome studies and fertility treatment in women with ovarian failure. Clin. Genet. 36:81-91, 1989. [PubMed: 2766572]
  • Hilton T, Castello R, Ohar J, Kong B, Kern M, Labovitz A: Persistent left superior vena cava in Turner''s syndrome: a transesophageal echocardiographic study. Am. Heart J. 123:234-236, 1992. [PubMed: 1729837]
    Patient was 39 years old with congenital persistent left superior vena cava is described.
    Index Terms: Persistent left superior vena cava
  • Holl R W, Kunze D, Etzrodt H, Teller W, Heinze E: Turner syndrome: final height, glucose tolerance, bone density and psychosocial status in 25 adult patients. Europ. J. Pediat. 153:11-16, 1994. [PubMed: 8313917]
    Infertility appears to be of importance.
    Index Terms: Height,Glucose tolerance
  • Holmes-Siedle M, Ryynanen M, Lindenbaum R H: Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenat. Diag. 7:239-244, 1987. [PubMed: 3588542]
    A decision to continue the pregnancy was made more often for XYY and XXX rather than for XXY and 45,X.
  • Holm V A, Costeff H, Ruvalcaba R H A: Reply to the Letter to the Editor. Acta Paed. Scand. 80:1255-1256, 1992.
    Massarano A A: Growth hormone therapy and final height in girls with Turner''s syndrome. Acta Paed. Scand. 80:1254-1255, 1992. [PubMed: 1785303]
    Massarano A A, Brook C G D, Hindmarsh P C, Pringle P J, Teale J D, Stanhope R, Preece M A: Growth hormone secretion in Turner''s syndrome and influence of oxandrolone and ethinyl oestradiol. Arch. Dis. Childhood 64:587-592, 1989. [PMC free article: PMC1791986] [PubMed: 2751332]
    Index Terms: Growth hormone,Height
  • Hook E B, Warburton D: The distribution of chromosomal genotypes associated with Turner''s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum. Genet. 64:24-27, 1983. [PubMed: 6683706]
  • Houge G, Boman H, Lybaek H, Ness G O, Juliusson P B.: Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich-Turner syndrome patient with three children. AJMG DOI=10.1002/ajmg.a.31204; 140A: 1092-1097, 2006. [PubMed: 16596671]
    Mother=45,X.,Daughter=46,X,del(X)(p22.11).
    The 45,X TS patient had given births to three daughters at her ages 29, 31, and 39. The 3rd daughter led to the investigation.
    Index Terms: Oogenesis in 45,X TS
  • Hou J W, Hwu W L, Tsai W Y, Lee J S, Wang T R, Lue H C.: Cardiovascular disorders in Turner''s syndrome and its correlation to karyotype. J. Formosa Med. Assoc. 92:188-189, 1993. [PubMed: 8101751]
    11/66 patients, ie 22.4%, have CHDs. The aortic malformations (aortic coarctation-27%; aortic stenosis-18%; and bicuspid aortic valve-18% were most frequent.
    Index Terms: Cardiovascular disorders
  • Hovatta O.: Pregnancies in women with Turner''s syndrome. Ann. Med. 31:106-110, 1999. [PubMed: 10344582]
    Magee A C, Nevin N C, Armstrong M J, McGibbon D, Nevin J.: Ullrich-Turner syndrome: seven pregnancies in an apparent 45,X woman. AJMG 75:1-3, 1998. [PubMed: 9450847]
    One normal live male birth and all others pregnancies were missed abortions or termination because of a 45,X fetus in this 37 yo woman.
    Several tissues were used to determine mosaicism.
    Index Terms: Pregnancy in UTS
  • Hsu L Y F: Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update. Prenat. Diag. 9:31-48, 1989. [PubMed: 2664755]
    Index Terms: Mosaicism,Prenatal ... diagnosis
  • Hsu L Y F.: Prenatal diagnosis of 45,X/46,XX. AJHG 58:634, 1996. [PMC free article: PMC1914569] [PubMed: 8644723]
    Koeberl D D, McGillivray B, Sybert V P.: Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. AJHG 57:661-666, 1995. [PMC free article: PMC1801266] [PubMed: 7668295]
    Sybert V P, Koeberl D, McGillivray B.: Reply to Hsu. AJHG 58:635-636, 1996.
    An interesting discussion on counseling of mosaic patients!

    Sybert V P. : Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome. J. Med. Genet. 39:217-220, 2002. [PMC free article: PMC1735059] [PubMed: 11897829]
    12 prenatally and 41 postnatally disgnosed mosaic patients were compared.
    It is suggested that there is an ascertainment bias in the detection of those with clinically evident abnormalities.
    Index Terms: Mosaicism
  • Hunter A G W, D''Alton M, Ivey B, Wang H S, Thompson D W: Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling. Prenat. Diag. 8:673-675, 1988. [PubMed: 3211856]
    Mrs. H.
    mos45,X/46,XX/47,XXX.
    An interesting report of spurious detection of mosaicism from fetal cells.
  • Same entry as in 13+ (Hyett et al, 1997).

  • Imai A, Horibe S, Fuseya T, Takagi H, Takagi A, Tamaya T.: Detection of SRY in 45,X/47,XYY mosaicism leading to phenotypic female. Clin. Genet. 51:124-126, 1997. [PubMed: 9112002]
    mos45,X(26)/47,XYY(14) in blood.
    The 16 year old girl was evaluated for primary amenorrhea and lack of sexual characteristics.
    The patient''s blood specimen was tested positive for SRY by PCR.
  • Ivarsson S-A, Carlsson A, Bredberg A, Alm J, Aronsson S, Gustafsson J, Hagenas L, Hager A, Kristrom B, Marcus C, Moell C, Nilsson K O, Tuvemo T, Westphal O, Albertsson-Wikland K, Aman J.: Prevalence of coeliac disease in turner syndrome. Acta Paediat. 88:933-936, 1999. [PubMed: 10519331]
    87 patients were studied.
    Screening for Coeliac disease seems to be justified in patients with TS.
    Index Terms: Coeliac disease in TS
  • Jaffe S B, Loucopoulos A, Jewelewicz R: Cytogenetics of Mullerian agenesis. A case report. J. Reprod. Med. 37:242-246, 1992. [PubMed: 1564711]
    mos45,X/46,XX/47,XXX.
    Patient was 35 years old with primary infertility and primary amenorrhea.
    Index Terms: Mullerian ... agenesis
  • Jagannath A D, Rastogi U, Spooner A E, Lin A E, Agnihotri A K.: Aortic dissection and moyamoya disease in Turner syndrome. AJMG Part A: DOI=10.1002/ajmg.a.33539, 2010. [PubMed: 20635402]
    45,X[25]/46,X,psu idic(Y)(q11.2)[5].ish (SRY++).
    Patient was 46 years old.
    Index Terms: Aortic dissection, Moyamoya disease
  • Jones C, Ahmed I, Cummings M R, Rosenthal I M: Association of double NOR variant with Turner syndrome. AJMG 30:725-732, 1988. [PubMed: 3189395]
    It is proposed that the presence of the dNOR variant can increase the rate of nondisjunction of the X chromosome.
    Index Terms: Double NOR
  • Juberg R C, Holliday D J, Hennessy V S: Familial sex chromosomal mosaicism. AJMG 37:15-17, 1990. [PubMed: 2240034]
    A dominant gene is hypothesized for this characteristic.
  • Kadotani T, Kanata S, Kubo S, Kodama H, Watanabe Y: A case of X/XX/Xr(X) derived from the father with the chromosome aberrations. Proc. Jpn. Acad. Ser. B. 61:35-36, 1985.
    Kadotani T, Watanabe Y, Matsuo N, Shimoda H: A case of X0-male newborn with multiple malformations. Proc. Jpn. Acad. Ser. B. 61:183-185, 1985.
  • Kaiser C, Abt K.: Recognizing Ullrich-Turner syndrome by discriminant analysis of craniofacial structure. AJMG 62:113-119, 1996. [PubMed: 8882391]
    Data from 21 patients and 27 craniofacial parameters were analyzed.
    Index Terms: Craniofacial structure
  • Kajii T, Ohama K: Inverse maternal age effect in monosomy X. Hum. Genet. 51:147-151, 1979. [PubMed: 511140]
    Index Terms: Age effect in Turner syndrome
  • Kaneko N, Kawagoe S, Hiroi M: Turner''s syndrome-review of the literature with reference to a successful pregnancy outcome. Gynecol. Obst. Invest. 29:81-87, 1990. [PubMed: 2185981]
    A 30 year old patient delivered a normal male infant.
    Index Terms: Pregnancy ... in Turner syndrome
  • Kaplowitz P B, Bodurtha J, Brown J, Spence J E: Monozygotic twins discordant for Ullrich-Turner syndrome. AJMG 41:78-82, 1991. [PubMed: 1951467]
    Twin A is normal: Blood-mos45,X/46,XX; skin-46,XX.,Twin B has the syndrome: Blood-mos45,X/46,XX; skin-45,X.
    Index Terms: Monozygotic twins
  • Kaplowitz P B, Chernausek S D, Horn J A: Fingernail angle in girls with Ullrich-Turner syndrome. AJMG 46:570-573, 1993. [PubMed: 8322823]
    24 patients (45,X) and 16 (variants and mosaics) others were studied along with controls (37).
    The mean fingernail angle (MFA) appears to be increased in patients with Turner syndrome.
    Index Terms: Mean fingernail angle (MFA) in Turner syndrome
  • Karlberg J, Albertsson-Wikland K, Nilsson K O, Ritzen E M, Westphal O: Growth in infancy and childhood in girls with Turner''s syndrome. Acta Paed. Scand. 80:1158-1165, 1991. [PubMed: 1785288]
    Index Terms: Growth in Turner syndrome
  • Kastrup K W, Turner study group: Oestrogen therapy in Turner''s syndrome. Acta Paed. Scand. Suppl. 343:43-46, 1988. [PubMed: 3195333]
    Index Terms: Oestrogen therapy
  • Kasznica J, Maldonado N M.: Umbilical cord hernia, single umbilical artery, and lung hypoplasia in Ullrich-Turner syndrome. AJMG 57:496-497, 1995. [PubMed: 7677160]
    Case detected prenatally and terminated at 18.5 weeks because of multiple malformations.
    Index Terms: Umbilical cord hernia, Single umbilical artery, Lung hypoplasia
  • Kelly T E, Ferguson J E, Golden W: Survival of fetuses with 45,X: an instructive case and an hypothesis. AJMG 42:825-826, 1992. [PubMed: 1554022]
  • Kemmann E, Jones J R, Orti E, Tricomi V: 45,X ovarian karyotype in ovulating female patient with Turner phenotype. Am. J. Obst. Gynecol. 129:341-342, 1977. [PubMed: 900202]
    Index Terms: Ovarian ... karyotype in Turner syndrome
  • Khastgir G, Abdalla H, Thomas A, Korea L, Latarche L, Studd J.: Oocyte donation in Turner''s syndrome: an analysis of the factors affecting the outcome. Hum. Reprod. 12:279-285, 1997. [PubMed: 9070711]
    The miscarriage rate was higher because of hypoplastic or bicornuate uterus and a low oocyte fertilization rate.
    Index Terms: Oocyte donation in TS
  • Kher A S, Chattopadhyay A, Datta S, Kanade S, Sreenivasan V K, Bharucha B A.: Familial mosaic Turner syndrome. Clin. Genet. 46:382-383, 1994. [PubMed: 7889652]
    The two sisters are K.A. and S.A.
    mos45,X/46,XX.
    The patients were studied because of amenorrhoea and delayed puberty.
  • Kimura M, Nakajima M, Yoshino K: Ullrich-Turner syndrome with agenesis of the corpus callosum. AJMG 37:227-228, 1990. [PubMed: 2248289]
    Patient was 19 years old, was mentally retarded and had hypotonia, and on CT scan showed agenesis of corpus callosum.
    The high prenatal lethality may mask this CNS abnormality.
    Index Terms: Corpus callosum
  • Kirby W C: Pediatrics 87:745, 1991.
    Moore J W, Kirby W C, Rogers W M, Poth M A: Partial anomalous pulmonary venous drainage associated with 45,X Turner''s syndrome. Pediatrics 86:273-276, 1990. [PubMed: 2371102]
    PAPVD may be the most common cardiovascular abnormality in Turner patients.
    Index Terms: Partial anomalous pulmonary venous drainage (PAPVD)
  • Same entry as in 0Y0000 (Kistenmacher, 1978).

  • Knudtzon J, Aarskog D: 45,X/46,XY mosaicism. A clinical review and report of ten cases. Hum. Genet. 146:266-271, 1987. [PubMed: 3595646]
  • Kocova M, Siegel S F, Wenger S L, Lee P A, Trucco M: Detection of Y chromosome sequences in Turner''s syndrome by Southern blot analyses of amplified DNA. Lancet 342:140-143, 1993. [PubMed: 8101256]
    Kocova M, Trucco M: Centromere of Y chromosome in Turner''s syndrome. Lancet 343:925-926, 1994. [PubMed: 7908394]
    Kocova M, Witchel S F, Nalesnik M, Lee P A, Dickman P S, MacGillivray M H, Reiter E O, Trucco G, Trucco M.: Y chromosomal sequences identified in gonadal tissue of two 45,X patients with Turner syndrome. Endocr. Path. 6:311-322, 1995. [PubMed: 12114813]
    Analysis for the SRY gene was positive for both patients and in one patient positive signals were obtained for all Y-specific probes.

    Page D C: Y chromosome sequences in Turner''s syndrome and risk of gonadoblastoma or virilisation. Lancet 343:240, 1994. [PubMed: 7904699]
    18 patients with TS were studied.
    45,X in 10 patients.,mos45,X/47,XXX in 2 patients.,mos45,X/46,X,r(X) in 2 patients.,mos45,X/46,X,i(Xq) in 2 patients.,mos45,X/46,X,+mar.,mos45,X/46,XX/46,XXp+.
    Pure monosomy for X is rare. Y sequences were found but none were positive for DYZ3.,Page has raised some questions with regard to the actual methodology and risk calculations.,The 1994 paper reports that all except one of the patients were positive for Y centromeric sequence.
    Index Terms: Gonadoblastoma,Virilisation,Y centromeric sequence
  • Same entry as in 47,XXX (Kohn et al, 1977).

  • Kohn G, Yarkoni S, Cohen M M: Two conceptions in a 45,X woman. AJMG 5:339-343, 1980. [PubMed: 7395915]
  • Same entry as in 130000 (Krajinovic M et al, 1994).

  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
  • Kreft B, Greiwe M, Schreiber M, Wiedemann G, Fehm H L.: Natural history of a case of Turner''s syndrome untreated and undiagnosed until middle age. Deut. Med. Wochen. 119:1115-1118, 1994.
    Patient was 56 years old with short stature and chronic back pain.
    mos45,X(19)/46,X,i(Xq)(29).
  • Krishna Murthy D S, Naguib K K, Al-Awadi S A, Sundareshan T S, Al-Othman S A, Hayat A A: Clinical and cytogenetic studies in familial polycystic ovarian disease. J. Obstet. Gynecol. 10:133-139, 1989.
    mos45,X/46,XX,fra(16)(q22)pat,9qh+(pat).
    Patient was 36 years old and was evaluated for infertility.
    MIM#: 184700
  • Kulkarni R, Hawkins J, Bradford W P: Prenatal diagnosis of 45,X/46,XX mosaicism in the fetus. Should the pregnancy be terminated? Prenat. Diag. 9:439-441, 1989. [PubMed: 2762236]
    Mrs. G. G.
    Amniotic fluid:mos45,X/46,XX.,Cordocentesis:mos45,X/46,XX.,Fetal tissues:mos45,X/46,XX.
    Female fetus with no evidence of external or internal abnormalities.
  • Kulkarni S, Ammini A C, Kucheria K.: Marker chromosome in a Turner patient. Ind. J. Hum. Genet. 1:123-126, 1995.
    27 cases were studied.
    mos45,X/46,XX(15 cases);,mos45,X/46,X,+mar(1 cases); and,45,X(11 cases).
  • Same entry as in 0Xp000 (Kushnick et al, 1987).

  • Kuznetzova T, Baranov A, Schwed N, Ivaschenko T, Malet P, Giollant M, Savitsky G A, Baranov V.: Cytogenetic and molecular findings in patients with Turner''s syndrome stigmata. J. Med. Genet. 32: 962-967, 1995. [PMC free article: PMC1051778] [PubMed: 8825925]
    12 patients were studied.
    46,X,i(Xq)(2);mos45,X/46,X,i(Xq)(1);46,X,t(X;Y)(1);mos45,X/46,X,mar(8).
    Y chromosome material was identified after use of SRY, DYZ1 or DYZ3.
  • Same entry as in 0Xp110 (Laca et al, 1981).

  • Laine T, Alvesalo L, Lammi S: Palatal dimensions in 45,X-females. J. Craniofac. Genet. Develop. Biol. 5:239-246, 1985. [PubMed: 4044787]
    Laine T, Alvesalo L, Savolainen A, Lammi S: Occlusal morphology in 45,X females. J. Craniofac. Genet. Develop. Biol. 6:351-355, 1986. [PubMed: 3793858]
    72 patients were studied. The common malocclusions were cross bite, large maxillary overjet, distal molar occlusion, and a tendency to open bite. It is suggested that genes on the X chromosome are of importance in the harmonius growth and development of the craniofacial skeleton and ultimately normal occlusal morphology and relations.
  • Lajborek-Cryz I: A 45,X woman with a 47,XY,G+ son. Clin. Genet. 9:113-116, 1976. [PubMed: 129309]
    Patient M.B. (520325) in this report.
    45,X in 70 metaphases.,The child with Down syndrome had 47,XY,G+ chromosomes.
  • Lambert-Messerlian G M, Saller Jr D N, Tumber M B, French C A, Peterson C J, Canick J A.: Second-trimester maternal serum inhibin A levels in fetal trisomy 18 and Turner syndrome with and without hydrops. Prenat. Diag. 18:1061-1067, 1998. [PubMed: 9826898]
    21 cases of trisomy 18, 10 cases of TS without hydrops, and 12 with hydrops were studied along with 5 matched controls to each case.
    The detection rate of TS may be enhanced by the addition of inhibin A level screening in maternal serum.
    Index Terms: Inhibin A
  • Lange R, Johannson G, Engel W: Chromosome studies in in-vitro fertilization patients. Hum. Reprod. 8:572-574, 1993. [PubMed: 8501188]
    mos45,X(3-6)/46,XX(94-97).,mos45,X(2)/46,XX(97)/46,X,-X,+f(X)(p21q11)(1).,mos45,X(1)/46,XX(97)/46,X,del(X)(q21)(1)/47,XXX(1).,mos45,X(3,5)/46,XX(96,94)/47,XXX(1).
    Index Terms: IVF
  • Larsen T, Gravholt C H, Tillebeck A, Larsen H, Jensen M B, Nielsen J, Friedrich U.: Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromosome in 45,X Turner syndrome ascertained cytogenetically. Clin. Genet. 48:6-11, 1995. [PubMed: 7586647]
    Another interesting study on this puzzling question!
    Index Terms: Mosaicism
  • Laundon C H, Spencer K, Macri J N, Anderson R W, Buchanan P D.: Free beta hCG screening of hydropic and non-hydropic Turner syndrome pregnancies. Prenat. Diag. 16:853-856, 1996. [PubMed: 8905900]
    14 cases of 45,X.,2 cases with mos45,X/46,XX and 45,X/47,XXX.,1 case with 46,X,i(X)(q10).
    Free beta hCG was effective marker.
    Index Terms: Beta hCG screening ... hydropic and non-hydropic
  • Lebel R R, Elejalde B F, de Elejalde M M, Avila T: 45,X/46,XX/47,XXX phenotype. Prenat. Diag. 13:1165-1166, 1993. [PubMed: 8177840]
    Patient 1:
    mos45,X(5)/46,XX(288)/47,XXX(4).
    The 35 year old woman was normal and ascertained because of two miscarriages.
    Patient 2:
    mos45,X(19)/46,XX(100)/47,XXX(1).
    Patient ascertained because of 11 miscarriages.
    Patient 3:
    mos45,X(13)/46,XX(18)/47,XXX(19).
    Patient ascertained during prenatal examination and because sister was reported to have an abnormal X chromosome.
  • Lenko H L, Perheentupa J, Soderholm A: Growth in Turner''s syndrome: spontaneous and fluoxymesterone stimulated. Acta Paed. Scand. Suppl. (No.) 277:57-63, 1979. [PubMed: 232355]
    25 patients when treated with 0.06-0.17 mg/kg daily, for a year, showed significant increases in their height.
    Index Terms: Turner syndrome
  • Lenko H L, Soderholm A, Perheentupa J: Turner syndrome: effect of hormone therapies on height velocity and adult height. Acta Paed. Scand. 77:699-704, 1988. [PubMed: 3201976]
    Index Terms: Hormone therapy
  • Leppig K A, Sybert V P, Ross J L, Cunniff C, Trejo T, Raskind W H, Disteche C M.: Phenotype and X inactivation in 45,X/46,X,r(X) cases. AJMG 128A:276-284, 2004. [PubMed: 15216549]
    21 individuals with mos r(X) were studied.
    45,X/46,X,r(X)
    Overall, the patients reported here appear to be less severely affected.
    Of nine individuals with MR, only one had a r(X) that lacked XIST.
  • Same entry as in 7+ (Leschot et al, 1996).

  • Leschot N J, Wolf H, Verjaal M, van Prooijen-Knegt A C, Boer K: Monosomy X found at first trimester CVS: a diagnostic and counselling dilemma. Clin. Genet. 37:236-237, 1990. [PubMed: 2323096]
    Problems of mosaicism in different tissues and type of cultures is discussed after presenting three cases.
  • Lespinasse J, Gicquel C, Robert M, Le Bouc Y.: Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome. Clin. Genet. 54:56-59, 1998. [PubMed: 9727741]
    mos45,X/46,XX in all three of them at varying proportions .
    Karyotyping different tissues is emphasized.
    Index Terms: Triplets in TS
  • Levin S E, Harrisberg J, Kelly A: Turner syndrome Pediatrics 87:745, 1991. [PubMed: 2020531]
    Patient with partial anomalous pulmonary venous drainage is discussed.
    Index Terms: Partial anomalous pulmonary venous drainage
  • Lin A E, Garver K L: Monozygotic Turner syndrome twins-correlation of phenotype severity and heart defect. AJMG 29:529-531, 1988. [PubMed: 3376996]
    45,X,der inv(9)(p13q13)mat.
    Index Terms: Congenital heart defects (cardiovascular anomalies),Turner syndrome
  • Linden M G, Bender B G, Robinson A.: Genetic counseling for sex chromosome abnormalities. AJMG DOI=10.1002/ajmg.10391; 110:3-10, 2002. [PubMed: 12116264]
    Puck M H, Bender B G, Borelli J B, Salbenblatt J A, Robinson A: Parents'' adaptation to early diagnosis of sex chromosome anomalies. AJMG 16:71-79, 1983. [PubMed: 6638073]
    Robinson A, Bender B G, Borelli J B, Puck M H, Salbenblatt J A: Sex chromosomal anomalies: prospective studies in children. Behavior Genet. 13:321-329, 1983. [PubMed: 6639559]
  • Lindsay A N, Sills I N, MacGillivray M H, Fisher J E, Voorhees M L: Dysgerminoma in a patient with the syndrome of gonadal dysgenesis with a 45,X karyotype. AJMG 10:21-24, 1981. [PubMed: 7294059]
    Patient was 19 years old.
    Index Terms: Dysgerminoma,Gonadal dysgenesis,Turner syndrome
  • Lippe B: Reply. J. Ped. 122:670, 1993.
    Rubin K: Aortic dissection and rupture in Turner syndrome. J. Ped. 122:670, 1993. [PubMed: 8463925]
    Rubin K.: Turner syndrome and osteoporosis: mechanisms and prognosis. Pediatr. 102:481-485, 1998. [PubMed: 9685448]
    The 20 year old patient died suddenly because of aortic dissection. Dr. Lippe reports of a 34 year old patient and suggests preventive measures.
    Index Terms: Coarctation of aorta in TS,Osteoporosis in TS
  • Lloyd I C, Haigh P M, Clayton-Smith J, Clayton P, Price D A, Ridgway A E A, Donnai D.: Anterior segment dysgenesis in mosaic Turner syndrome. Brit. J. Ophthal. 81:639-643, 1997. [PMC free article: PMC1722298] [PubMed: 9349149]
    Case 1=mos45,X[22/30]/46,X,idic(Y).,Case 2=mos45,X[50]/46,X,idic(Y)[50].,Case 3=mos45,X[18/30]/47,XXX.,Case 4=mos45,X/46,X,r(X).
    Two or more genetically different cell lines may have an adverse effect on anterior segment development.
    MIM#: 107250
    Index Terms: Anterior segment dysgenesis
  • Lopes L A, Benador D, Wacker P, Wyss M, Sizonenko P C.: Turner''s syndrome and hypogonadotrophic hypogonadism: Thalassemia major and hemochromatosis. J. Pediat. Endocr. Metabol. 8:73-77, 1995. [PubMed: 7584702]
    The patient is an Albanese girl born in November 1980.
    mos45,X/46,XX.
    The delay in growth and onset of puberty brought the patient to attention along with a slight increase of the internipple distance, a small cubitus valgus and short, imbedded toe nails.
    Index Terms: Thalassemia major, hemochromatosis,Hypogonadotropic hypogonadism
  • Lopez M, Canto P, Aguinaga M, Torres L, Cervantes A, Alfaro G, Mendez J P, Kofman-Alfaro S.: Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. AJMG 76:120-124, 1998. [PubMed: 9511973]
    Monroy N, Lopez M, Cervantes A, Garcia-Cruz D, Zafra G, Canun S, Zenteno J C, Kofman-Alfaro S.: Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes. AJMG 107:181-189, 2002. [PubMed: 11807897]
    Case 12=45,X/46,X,psu dic(X)(p11.2)mat.,Case 13=45,X/46,X,r(X)(p22.2q28)mat.,Case 14=45,X/46,X,r(X)(p21q13)pat.,Case 15=45,X/46,X,del(X)(q23)mat.
    In the 2002 study, 15 patients were studied: 10 with 45,X and others with various X aberrations.
    50 patients with UTS were studied.
    36 patients=45,X.,4 patients=45,X/46,XX.,4 patients=45,X/46,X,+mar.,4 patients=45,X/46,X,i(Xq).,1 patient=45,X/46,XY.,1 patient=45,X/46,X,del(Xp).
    12% incidence of Y chromosomal material was found in UTS patients.
  • Lopez-Osuna M, Vega-Avila E, Salamanca F, Kretschmer R R: Defective polymorphonuclear chemotaxis in patients with Turner''s syndrome (45,X). Clin. Genet. 34:165-171, 1988. [PubMed: 3180503]
  • Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A A: Molecular study of 45,X conceptuses: correlation with clinical findings. AJMG 42:487-490, 1992. [PubMed: 1351700]
  • Loughlin S A R, Redha A, McIver J, Boyd E, Carothers A, Connor J M: Analysis of the origin of Turner''s syndrome using polymorphic DNA probes. J. Med. Genet. 28:156-158, 1991. [PMC free article: PMC1016796] [PubMed: 2051451]
    34 families were studied.
    In 16 families the X was maternal in origin and there was no evidence of paternal age effect.
  • Low L C K, Sham C, Kwan E, Karlberg J, Tang G, Cheung P T, Pang H, Tse W, But B, Yu C M, Lam S T S.: Spontaneous growth in Chinese patients with Turner''s syndrome and influence of karyotype. Acta Paediat. 86:18-21, 1997. [PubMed: 9116419]
    858 observations on 203 patients with varying karyotype were reported.
    Patients with 46,X,i(Xq) were shorter and TS Chinese girls growth pattern ran parallel to that reported by others.
    Karyotype can have significant effect on the growth of children with TS.
    Index Terms: Growth spontaneous
  • Lubinsky M S, Doyle K, Trunca C: The association of ''prune belly'' with Turner''s syndrome. AJDC 134:1171-1172, 1980. [PubMed: 6449862]
    2 patients are described and suggestion has been made that prune belly syndrome in 45,X females is an etiologically distinct variant.
    Index Terms: Prune belly syndrome,Turner syndrome
  • Lu P W, Cowell C T, Jimenez M, Simpson J M, Silink M: Effect of obesity on endogenous secretion of growth hormone in Turner''s syndrome. Arch. Dis. Childhood 66:1184-1190, 1991. [PMC free article: PMC1793523] [PubMed: 1953000]
    It is concluded that the age related decline in endogenous secretion of growth hormone is partly the result of increasing body weight with age.
    Index Terms: Growth hormone
  • Same entry as in 13+ (MacLeod and McHugo, 1991).

  • Maeda O, Nakamura M, Namiki M, Okuyama A, Sonoda T, Akiyama T, Kurita T, Sakamoto H: 45X/46XX boy with hypospadias: case report. J. Urol. 135:1249-1251, 1986. [PubMed: 3712582]
    A 21-month old boy with abnormal external genitalia was studied.
    mos45,X/46,XX.
    Index Terms: Genitalia ... anomalies,Hypospadias,Turner syndrome
  • Same entry as in 0Yq120 (Mailhes et al, 1979).

  • Same entry as in 0Yq120 (Malkova et al, 1975).

  • Mansfield C, Hopfer S, Marteau T M on behalf of a European concerted action: DADA (Decision-making After the Diagnosis of a fetal Abnormality).: Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. Prenat. Diag. 19:808-812, 1999. [PubMed: 10521836]
    Six centers, from 4 countries, reporting on 176 pregnancies. 126 terminated (72%), confidence intervals 69%-75%.
    Index Terms: Termination rates
  • Martinez A, Heinrich J J, Domene H, Escobar M E, Jasper H, Montuori E, Bergada C: Growth in Turner''s syndrome: long term treatment with low dose ethinyl estradiol. J. Clin. End. Met. 65:253-257, 1987. [PubMed: 3597706]
    Index Terms: Turner syndrome
  • Martin+¬z-Pasarell O, Nogu+¬s C, Bosch M, Egozcue J, Templado C.: Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients. Hum. Genet. 104:345-349, 1999. [PubMed: 10369165]
    In the four individuals studied, an increased frequency of errors in MI were found.
  • Martinez-Pasarell O, Templado C, Vicens-Calvert E, Egozcue J, Nogu+¬s C.: Paternal sex chromosome aneuploidy as a possible origin of Turner syndrome in monozygotic twins: case report. Hum. Reprod. 14:2735-2738, 1999. [PubMed: 10548612]
    At 4.5 years of age the twins were referred for diagnostic studies.
    45,X
    The twins exihibited Turner phenotype including short stature, short neck, and IQ of 98 and 72.
    Twins were monochorionic, diamniotic, and monozygotic. Paternal meiotic error occurred before twinning event.
    Index Terms: Monozygotic twins,Paternal origin
  • Mason J O, III, Tasman W.: Turner''s syndrome associated with bilateral retinal detachments. Am. J. Ophthal. 122:742-743, 1996. [PubMed: 8909223]
    Index Terms: Retinal detachments bilateral
  • Massa G G, Vanderschueren-Lodeweyckx M: Age and height at diagnosis in Turner syndrome: influence of parental height. Pediat. 88:1148-1151, 1991. [PubMed: 1956730]
    It is recommended that to make an early diagnosis, a cytogenetic examination should be made for all girls with height more than 2 SD below the mean for age or more than 2 SD below corrected mid parental height.
    Index Terms: Height
  • Masters K W.: Treatment of Turner''s syndrome--a concern. Lancet 348:681-682, 1996. [PubMed: 8782767]
    Taback S P, Collu R, Deal C L, Guyda H J, Salisbury S, Dean H J, Van Vliet G.: Does growth-hormone supplementation affect adult height in Turner''s syndrome? Lancet 348:25-27, 1996. [PubMed: 8691926]
    31 subjects (17 treated and 14 controls) were studied.
    The jury is still out on this topic of what to expect after treatment!
    Index Terms: Growth hormone,Height adult
  • Mathur A, Stekol L, Schatz D, MacLaren N K, Scott M L, Lippe B: The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. AJHG 48:682-686, 1991. [PMC free article: PMC1682964] [PubMed: 1673045]
    25 patients were studied.
    18 patients retained the maternal X chromosome whereas 7 retained the paternal X chromosome. No differences were detected in the parental ages between the two groups.
    Index Terms: Parental age
  • Mazzanti L, Cacciari E, and the Italian Study Group for Turner syndrome.: Congenital heart disease in patients with Turner''s syndrome. J. Pediat. 133:688-692, 1998. [PubMed: 9821430]
    45,X-54%. X-mosaicism-13%. X-structural abnormalities-33%.
    The prevalence of cardiac malformations among 594 TS patients was 23%. Bicuspid aortic valve (12.5%), aortic coarctation (6.9%), and aortic valve disease (3.2%).
    Index Terms: CHD in TS
  • Mazzanti L, Cacciari E, Bergamaschi R, Tassinari D, Magnani C, Perri A, Scarano E, Pluchinotta V.: Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes. J. Pediat. 131:135-140, 1997. [PubMed: 9255205]
    Mazzanti L, Prandstraller D, Tassinari D, Rubino I, Santucci S, Picchio F M, Forabosco A, Cacciari E: Heart disease in Turner''s syndrome. Helv. Paediat. Acta 43:25-31, 1988. [PubMed: 3170246]
    142 with different karyotypes were studied.
    Pelvic ultrasonography was found to be particularly useful in detecting ovaries and their possible increase in volume. These data linked with karyotype pattern and gonadotropin levels, have prognostic value in predicting the sexual development.
    59 patients with different karyotypes were studied.
    No anomaly was found in the 13 patients with isochromosome X. It is suggested that factors controlling coarctation of aorta and partial anomalous pulmonary venous drainage may be on the X chromosome.
    Index Terms: Pelvic ultrasonography,Ovarian development in TS,Congenital heart disease in TS
  • Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A, Cacciari E. : Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. AJMG DOI=10.1002/ajmg.a.30569; 135A:150-154, 2005. [PubMed: 15880570]
    A total of 171 patients (1-34 years old) were studied for Y-chromosome markers. Y-chromosome material was found in 14/101 patients with UTS in a follow-up of 2-22 years. 12 of these were gonadectomized (2.8-25.9 years). A gonadoblastoma was detected in 4 patients under 16 years of age.
    Index Terms: Gonadoblastoma
  • McCauley E, Sybert V P, Ehrhardt A A: Psychological adjustment of adult women with Turner syndrome. Clin. Genet. 29:284-290, 1986. [PubMed: 3720006]
    Sybert V P, McCauley E.: Turner''s syndrome. NEJM 351:1227-1238, 2004. [PubMed: 15371580]
    A good review article in NEJM!
    Thirty subjects, of ages 21 to 48 years, showed a subgroup reporting major psychiatric difficulties and endorsing a considerably impaired sense of self-esteem. These women presented as very dissatisfied with themselves and their lives.
    Index Terms: Psychiatric problems,Turner syndrome
  • McCorquodale M M, Bowdle F C: Two pregnancies and the loss of the 46,XX cell line in a 45,X/46,XX Turner mosaic patient. Fert. Ster. 43:229-233, 1985. [PubMed: 3967782]
    Patient was 25 years old; and had two normal children.
    mos45,X/46,XX.
    Index Terms: Mosaicism in Turner syndrome
  • Mehra S, Schmid W, Spiegel R.: Rapid detection of sex chromosomal aneuploidies by PCR. Ind. J. Med. Res. 101:111-114, 1995. [PubMed: 7751038]
    Index Terms: PCR & sex aneuploidies
  • Mendes J R T, Strufaldi M W L, Delcelos R, Mois+¬s R C M S, Vieira J G, Kasamatsu T S, Galera M F, Andrade J A D, Verreschi I T N.: Y-chromosome identification by PCR and gonadal histopathology in Turner''s syndrome without overt Y-mosaicism. Clin. Endocrinol. 50:19-26, 1999. [PubMed: 10341852]
    36 patients with TS were studied.
    In 30% of patients Y-sequence is disclosed.
    Index Terms: Gonadal histopathology,Y-mosaicism overt
  • Mendez J P, Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinick O, Fernandez-del-Castillo C, Reyes E, Perez-Palacios G: Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients. AJMG 46:263-267, 1993. [PubMed: 8488868]
    Patient 10.
    mos45,X/46,X,idic(Y).
    Patient 7.
    mos45,X/46,XYp-.
    Patient 8.
    mos45,X/47,XYY.
    Patients 1 to 6, 12 and 13, and 16.
    mos45,X/46,XY.
    Patients 14 and 15.
    mos45,X/46,X,dic(Y).
  • Same entry as in 0Xp110 (Midro A T et al, 1988).

  • Same entry as in 06p120 (Midro A T et al, 1992).

  • Milner R D G: Current views on the treatment of Turner''s syndrome. Acta Paed. Scand. (Suppl.) 331:53-58, 1987. [PubMed: 3300156]
    Index Terms: Turner syndrome
  • Minelli E, Buchi E, Granata P, Meroni E, Righi R, Portentoso P, Giudici A, Ercoli A, Sartor M G, Rossi A, Fasola M, Campagna C, Casalone R: Cytogenetic findings in echographically defined blighted ovum abortions. Ann. Genet. 36:107-110, 1993. [PubMed: 8215215]
    52 spontaneous blighted ovum abortions were studied.
    Index Terms: Blighted ovum abortions
  • Miozzo M, Sozzi G, Cariani C T, Di Palma S, Luksch R, Azzarelli A, Pierotti M A, Della Porta G: "A synovial sarcoma with t(X;18)(p11;q11) in a patient with Turner''s syndrome." Genes, Chromosomes & Cancer 4:192-193, 1992. [PubMed: 1373322]
    45,t(X;18)(p11;q11).
    A first case of synovial sarcoma in a Turner syndrome patient with the only X chromosome being involved in translocation.
    Index Terms: Synovial sarcoma
  • Miyabara S, Nakayama M, Suzumori K, Yonemitsu N, Sugihara H.: Developmental analysis of cardiovascular system of 45,X fetuses with cystic hygroma. AJMG 68:135-141, 1997. [PubMed: 9028446]
    Miyabara S, Sugihara H, Maehara N, Shouno H, Tasaki H, Yoshida K, Saito N, Kayama F, Ibara S, Suzumori K: Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis. AJMG 34:489-501, 1989. [PubMed: 2533851]
    13 fetuses with cystic hygroma were studied between 12 to 23 weeks.
    Hypoplastic thymus was present in all of them. The aortic valve was bicuspid in 11 cases and unicuspid in 2 cases.
    Index Terms: Cystic hygroma
  • Money J W: Cytogenetic and psychosexual incongruities with a note on space-form blindness. Am. J. Psychia. 119:820-827, 1963. [PubMed: 13936030]
    Index Terms: Blindness ... space-form,Turner syndrome
  • Money J W: Two cytogenetic syndromes: psychologic comparisons. I. Intelligence and specific-factor quotients. J. Psychiat. Res. 2:223-231, 1964. [PubMed: 14242379]
  • Morava E, Hermann R, Czak+¦ M, Solt+¬sz G, Kosztol+ínyi G.: Isodicentric Y chromosome in an Ullrich-Turner patient without virilization. AJMG 91:99-101, 2000. [PubMed: 10748405]
    The 17 year old patient presented with UTS and primary amenorrhea.
    mos45,X/46,X,idic(Y)(q11).
  • Muasher S, Baramki T A, Diggs E S: Turner phenotype in mother and daughter. Obst. Gynecol. 56:752-756, 1980. [PubMed: 7443121]
    Patient, JT, 36 years old.
    Blood: 45,X/skin fibroblasts: 45,X(85%)/46,X,r(X)(15%).
    Patient, RT, 18 years old.
    45,X.
    Index Terms: Turner syndrome
  • Murano I, Matsuo K, Kajii T: Early onset of menstruation in a 45,X girl. Jpn. J. Hum. Genet. 30:35-40, 1985. [PubMed: 3925199]
    The patient began menstruation at age 10.3 years.
    Index Terms: Turner syndrome
  • Murphy D G M, DeCarli C, Daly E, Haxby J V, Allen G, White B J, McIntosh A R, Powell C M, Horwitz B, Rapoport S I, Schapiro M B: X-chromosome effects on female brain: a magnetic resonance imaging study of Turner''s syndrome. Lancet 342:1197-1200, 1993. [PubMed: 7901528]
    Murphy D G M, Mentis M J, Pietrini P, Grady C, Daly E, Haxby J V, De La Granja M, Allen G, Largay K, White B J, Powell C M, Horwitz B, Rapoport S I, Schapiro M B.: A PET study of Turner''s syndrome: effects of sex steroids and the X chromosome on brain. Biol. Psychiat. 41:285-298, 1997. [PubMed: 9024951]
    9 patients with full blown syndrome and 9 other mosaics were studied.
    45,X&mos45,X/46,X,r(X).&mos45,X/46,X,i(Xq).&mos45,X/46,X,del(X)(q21).&mos45,X/46,X,del(X)(q13).&mos45,X/46,XX.
    It is postulated that the X chromosome plays an important part in the development and ageing of grey matter in striatum, diencephalon, and cerebral hemispheres.
    Index Terms: Brain,Diencephalon,Striatum,Cerebral ... hemispheres
  • Naeraa R W, Eiken M, Legarth E G, Nielsen J: Prediction of final height in Turner''s syndrome. A comparative study. Acta Paed. Scand. 79:776-783, 1990. [PubMed: 2239272]
    Naeraa R W, Nielsen J: Standards for growth and final height in Turner''s syndrome. Acta Paed. Scand. 79:182-190, 1990. [PubMed: 2321480]
    Naeraa R W, Nielsen J, Pedersen I L, Sorensen K: Effect of oxandrolone on growth and final height in Turner''s syndrome. Acta Paed. Scand. 79:784-789, 1990. [PubMed: 2239273]
    Index Terms: Height,Oxandrolone
  • Natowicz M, Kelley R I: Association of Turner syndrome with hypoplastic left-heart syndrome. AJDC 141:218-220, 1987. [PubMed: 3812392]
    Three cases are presented from a 11 year period.
    Index Terms: Congenital heart defects (cardiovascular anomalies),Turner syndrome
  • Nazarenko S A, Timoshevsky V A, Sukhanova N N.: High frequency of tissue-specific mosaicism in Turner syndrome patients. Clin. Genet. 56:59-65, 1999. [PubMed: 10466418]
    50 patients were studied.
    It is suggested that in cases when mosaic aneuploidy with low-level frequency is questionable, the results of standard metaphase analysis should be supplemented with additional FISH studies of interphase nuclei.
    Index Terms: Mosaicism tissue specific in TS
  • Newberg M T, Francisco R G, Pang M G, Brugo S, Doncel G F, Acosta A A, Hoegerman S F, Kearns W G.: Cytogenetics of somatic cells and sperm from a 46,XY/45,X mosaic male with moderate oligoasthenoteratozospermia. Fert. Steril. 69:146-148, 1998. [PubMed: 9457952]
    The 30-year-old presented with primary fertility and testicular pain.
    A significantly higher number of aneuploid sperms were detected.
    Index Terms: Oligoasthenoteratozoospermia
  • Nicholls D, Stanhope R.: Turner''s syndrome, anorexia nervosa, and anabolic steroids. Arch. Dis. Childhood 79:94, 1998. [PMC free article: PMC1717631] [PubMed: 9771263]
    2/34 patients with anorexia nervosa and TS:
    Treated with a combination of oxandrolone and oestrogen.
    Index Terms: Anorexia nervosa,Anabolic steroids
  • Nicolaides K H, Snijders R J M, Gosden C M, Berry C, Campbell S: Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 340:704-707, 1992. [PubMed: 1355807]
    2086 patients were studied.
    38 cases were found in a total of 301 abnormal karyotypes.
  • Nielsen J, Sillesen I, Hansen K B: Fertility in women with Turner''s syndrome. Case report and review of literature. Brit. J. Obst. Gynecol. 86:833-835, 1979. [PubMed: 508669]
    Nine pregnancies have been recorded in seven women with 45,X karyotype and 56 pregnancies in 23 women with mosaicism involving 45,X cell line. 8% of the children born had Down syndrome.
    Index Terms: Down syndrome (Trisomy 21),Turner syndrome
  • Nielsen J, Sillesen I: Follow-up till age 3-4 of unselected children with sex chromosome abnormalities. Hum. Genet. 33:241-257, 1976. [PubMed: 964986]
    Four patients with 45,X (three of them mosaic, 1 each with 46,XX; 46,XY; and 47,XXX); three with 47,XXX; four with 47,XYY (one mosaic 46,XY); and four with 47,XXY chromosomes were followed until age 2-1/2 -> 5 years. Mental development was within the normal range but other differences were found on comparison with siblings.
    Index Terms: Turner syndrome
  • Nielsen J: What more can be done for girls and women with Turner''s syndrome and their parents? Acta Paed. Scand. Suppl. 356:93-100, 1989. [PubMed: 2816363]
    Nielsen J, Sorensen A M, Sorensen K: Mental development of unselected children with sex chromosome abnormalities. Hum. Genet. 59:324-332, 1981. [PubMed: 7333586]
    Nielsen J, Stradiot M: Transcultural study of Turner''s syndrome. Clin. Genet. 32:260-270, 1987. [PubMed: 3677465]
    Index Terms: Turner syndrome
  • Nieuwint A, Van Zalen-Sprock R, Hummel P, Pals G, Van Vugt J, Van Der Harten H, Heins Y, Madan K.: ''Identical'' twins with discordant karyotypes. Prenat. Diag. 19:72-76, 1999. [PubMed: 10073913]
    Case B:
    Twin I=mos45,X/46,XY; Twin II=45,X
    Both pregnancies were terminated.
    Index Terms: Twins MZ with discordant karyotype
  • Nijhuis-van der Sanden R W G, Smits-Engelsman B C M, Eling A T M.: Motor performance in girls with Turner syndrome. Develop. Med. Child Neurol. 42:685-690, 2000. [PubMed: 11085297]
    15 girls with TS (age range 5.8 to 12.5 years) were tested on the Movement Assessment Battery for Children (MABC).
    9 were 45,X; and 6 were mosaic
    It was found that girls with TS indeed experience a significant general motor impairment, but, the motor problems apparently cannot be attributed to cognitive problems.
    Index Terms: Motor performance in TS
  • Nocera G, Dalpra L, Tibiletti M G, Buscaglia M: Five cases of prenatally diagnosed sex chromosome mosaicism. Prenat. Diag. 5:169-174, 1985. [PubMed: 4022940]
    Case 1: mos45,X/46,X,i(Xq)/47,X,i(Xq)i(Xq). 16 colonies in 5 independent cell cultures were examined.&"Case 2: mos45,X/46,XYnf;56/94."&Case 4: mos45,X/46,XX.&Case 5: mos45,X/46,XX/47,XXX.
    Index Terms: Turner syndrome
  • Same entry as in Gonadal Dysgenesis (Nonomura N et al, 1991).

  • Noppen M, Vincken W.: Essential hyperhidrosis in Turner syndrome. Clin. Genet. 52:63-64, 1997. [PubMed: 9272716]
    2 cases are reported.
    MIM#: 144110
    Index Terms: Essential hyperhidrosis
  • Novak A Z, Kokai G K, Popovic V P, Ludoski M D, Jurukovski V A.: Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner''s syndrome and chromosomal mosaicism. Hum. Genet. 95:293-298, 1995. [PubMed: 7868121]
    The genomic constitution of the germ cells/oocytes in ovarian primordial follicles was 46,XX! Dr. Howard Jones of Norfolk, Virginia had told us in the 1970s, when both of us were on the faculty at Johns Hopkins in Baltimore that this must be case. He is proven to be right on the target.
  • Ochi H, Takeuchi J, Sandberg A A: Multiple cancers in a Turner''s syndrome with 45,X/46,XXp-/46,XX/47,XXX karyotype. Cancer Genet. Cytogenet. 16:335-339, 1985. [PubMed: 3978600]
    Index Terms: Ears ... preauricular pits,Turner syndrome
  • Ohzeki T, Hayashi K, Higurashi M, Hanaki K, Ishitani N, Shiraki K: Ullrich-Turner syndrome and anorexia nervosa. AJMG 32:87-89, 1989. [PubMed: 2705487]
    Ohzeki T, Igarashi Y, Egi S, Kagawa J, Higurashi M: Turner''s syndrome with anorexia nervosa. Am. J. Med. 84:792-793, 1988. [PubMed: 3135747]
    Index Terms: Anorexia
  • Okada Y: The quality of life of Turner women in comparison with grown-up GH-deficient women. Endocri. J. 41:345-354, 1994. [PubMed: 8528349]
    Turner women are well educated and work as normal women, but they, as well as GH-deficient women, appear to be anxious about their body and marriage.
    Index Terms: Quality of life
  • Same entry as in 0Yp110 (Ono T et al, 1989).

  • Osipova G R, Karmanov M E, Kozlova S I, Evgrafov O V.: PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: clinical implications and limitations. AJMG 76:283-287, 1998. [PubMed: 9545090]
    5/13 patients showed Y specific sequences, SRY and AMGLY.
  • Same entry as in 0X0000 (Otokida K et al, 1990).

  • Otto P A, Kasahara S, Nunesmaia H G, Frota-Pessoa O: Risk of 45,X karyotype in offspring of Turner''s syndrome patients. Lancet 11:257, 1977. [PubMed: 69872]
    It is suggested that the risk is 1.5 per 1000.
    Index Terms: Turner syndrome
  • Page L A: Final heights in 45,X Turner''s syndrome with spontaneous sexual development. Review of European and American reports. J. Pediat. Endocrin. 6:153-158, 1993. [PubMed: 8348220]
    Studies suggest that even low-dose exogenous estrogen would not increase ultimate stature in these patients.
    Index Terms: Estrogen,Stature ... and Estrogen
  • Palmer C G, Reichmann A: Chromosomal and clinical findings in 110 females with Turner syndrome. Hum. Genet. 35:35-49, 1976. [PubMed: 1002163]
    Patients with variable numerical and structural abnormalities of the X chromosome are described in this report.
    Index Terms: Turner syndrome
  • Same entry as in 0X0000 (Panzer and Tandon, 1991).

  • Park E, Bailey J D, Cowell C A: Growth and maturation of patients with Turner''s syndrome. Ped. Res. 17:1-7, 1983. [PubMed: 6835711]
  • Partsch C J, Pankau R, Sippell W G, Tolksdorf M: Normal growth and normalization of hypergonadotropic hypogonadism in atypical Turner syndrome (45,X/46,XX/47,XXX). Correlation of body height with distribution of cell lines. Europ. J. Pediat. 153:451-453, 1994. [PubMed: 8088302]
    Patient was born in 1979.
    Amnio:mos45,X(45)/46,XX(48)/47,XXX(2 cells) done twice with same result.&Blood @ 2 yrs of age:45,X(10)/46,XX(36)/47,XXX(4).&Blood @ 9 yrs of age:45,X(1)/46,XX(47)/47,XXX(2).&Skin fibroblasts:45,X(3)/46,XX(37)/47,XXX(10).
    Index Terms: Hypergonadotropic hypogonadism
  • Patsalis P C, Hadjimarcou M I, Velissariou V, Kitsou-Tzeli S, Zera C, Syrrou M, Lyberatou E, Tsezou A, Galla A, Skordis N.: Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome. Clin. Genet. 51:184-190, 1997. [PubMed: 9137884]
    Patsalis P C, Sismani C, Hadjimarcou M I, Kitsiou-Tzeli S, Tzezou A, Hadjiathanasiou C G, Velissariou V, Lymberatou E, Moschonas N K, Skordis N.: Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients. Clin. Genet. 53:249-257, 1998. [PubMed: 9650760]
    50 patients with TS stigmata were studied.
    Group A (21 patients)=45,X.,Group B (7 patients)=46,X, various structural anomalies on the second X chromosome, including:, Patient 22=46,X,t(X;1)(q13;p31),Patient 25=46,X,t(X;16)(q13;q21). ,Probably a typographical error in the listing of these two karyotypes [46,X X,t(X;1) and 46,X X,t(X;16)].,Group C (16 patients)=mos45,X/46,X, an additional cell line.,Group D (6 patients)=mos with an supernumerary marker chromosome.
    The small Y chromosome was identified by FISH with Yc-2 probe and PCR using SRY and DMD primers in the 1997 study report.
  • Pavlidis K, McCauley E, Sybert V P.: Psychosocial and sexual functioning in women with Turner syndrome. Clin. Genet. 47:85-89, 1995. [PubMed: 7606849]
    80 subjects were in this study.
    Index Terms: Psychosocial and sexuality in Turner syndrome
  • Same entry as in 21+ (Peakman et al, 1979).

  • Pedersen I K, Philip J, Sele V, Starup J: Monozygotic twins with dissimilar phenotypes and chromosome complements. Acta Obst. Gynecol. Scand. 59:459-462, 1980. [PubMed: 7192474]
    Twin A.
    mos 45,X/46,XX, had gonadal dysgenesis.
    Twin B.
    46,XX.
  • Peltomaki T, Alvesalo L, Isotupa K: Shape of the craniofacial complex in 45,X females: cephalometric study. J. Craniofac. Genet. Develop. Biol. 9:331-338, 1989. [PubMed: 2634680]
  • Pelz L, Kobschall H, Lubcke U G, Kruger G, Hinkel G K, Verron G: Long-term follow-up in females with Ullrich-Turner syndrome. Clin. Genet. 40:1-5, 1991. [PubMed: 1884512]
    Pelz L, Sager G, Hinkel G K, Kirchner M, Kruger G, Verron G: Delayed spontaneous pubertal growth spurt in girls with the Ullrich-Turner syndrome. AJMG 40:401-405, 1991. [PubMed: 1746600]
    Pelz L, Timm D, Eyermann E, Hinkel G K, Kirchner M, Verron G: Body height in Turner''s syndrome. Clin. Genet. 22:62-66, 1982. [PubMed: 7172479]
    Comparison between 45,X(n=64) and mos45,X/46,XX(n=20) patients reveals that there are no differences in the growth curves.
    The delay in acute growth spurt corresponds to the delay of skeletal maturation (on the average 2 to 3 years of chronological age).
    Index Terms: Growth
  • Pescia G, Ferrier P E, Wyss-Hutin D, Klein D: 45,X Turner''s syndrome in monozygotic twin sisters. J. Med. Genet. 12:390-396, 1975. [PMC free article: PMC1013318] [PubMed: 1240972]
    Reportedly a sixth case of twinning and non-mosaic 45,X Turner syndrome.
    Index Terms: MZ twins ... in Turner syndrome
  • Petrusevska R, Beudt U, Schafer D, Schneider M, Brude E, Leitner C, Heller K, Arnemann J. : Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis. Clin. Genet. 49:261-266, 1996. [PubMed: 8832135]
    mos45,X/46,X,del(Y) or r(Y).
    The patient was a 12-year-old girl with Turner stigmata and virilized external genitalia. Some testicular structures were present in the streak gonads.
    DNA sequences from interval 1-6 of the Y chromosome were present and DYZ1 and interval 7 was absent.
    Index Terms: Mixed gonadal dysgenesis
  • Pettenati M J, Wheeler M, Bartlett D J, Subrt I, Rao N, Kroovand R L, Burton B K, Kahler S, Park H K, Cosper P, Kelly D R, Ranells J D: 45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases. AJMG 39:42-47, 1991. [PubMed: 1867264]
    7 cases are presented.
    45,X/47,XYY.
    A perfect use of the sister publication of the International Registry of Abnormal Karyotypes- Repository of Human Chromosomal Variants and Anomalies was made in this study to collate data on additional cases]
  • Same entry as in 0Yp100 (Pezzolo A et al, 1993).

  • Pfeiffer R A, Tietze H U, Krone H A, Schaaff A, Dhom G, Peter H: "Invasive dysgerminoma in a girl with 45,X/46,X;mar mosaicism." Arch. Gynecol. 233:141-147, 1983. [PubMed: 6882018]
    Index Terms: Dysgerminoma
  • Philip J, Sele V: 45,XO Turner''s syndrome without evidence of mosaicism in a patient with two pregnancies. Acta Obst. Gynecol. Scand. 55:283-286, 1976. [PubMed: 936993]
    Chromosome studies from five different tissues (including two ovaries) failed to show evidence of mosaicism in this interesting patient.
    Index Terms: Pregnancy ... in Turner syndrome
  • Philipp T, Kalousek D K.: Morphology of the 45,X embryo: an embryoscopic study. AJMG DOI=10.1002/ajmg.a.20205;120A:314-319, 2003. [PubMed: 12838548]
    24 cases of missed abortion were studied.
    The embryos ranged in size from 13mm to 26mm and were all developed beyond the sixth week of development. The phenotype varied from nearly normal to obviously abnormal with a combination of localized external developmental defects consisting of microcephaly, facial dysplasis, and retarded limb development.
    Index Terms: Embryoscopic
  • Same entry as in 0Xp000 (Picciano et al, 1972).

  • Pidcock F S: Intellectual functioning in Turner syndrome. Develop. Med. Child Neurol. 26:539-545, 1984. [PubMed: 6383910]
    Index Terms: Intellectual functioning in TS
  • Pincheira J V, Bustos-Obregon E, Pumarino H, Santos M A: 45,XO/49,XYYYY mosaicism in a male with stigmata of Turner''s syndrome. Clin. Genet. 24:384-388, 1983. [PubMed: 6652949]
    mos45,X(97.5%)/49,XYYYY(1.1%).
  • Poland B J, Dill F J, Paradice B: A Turner-like phenotype in the aborted fetus. Teratology 21:361-365, 1980. [PubMed: 7455926]
  • Polychronakos C, Letarte J, Collu R, Dharme J R: Carbohydrate intolerance in children and adolescent with Turner syndrome. J. Ped. 96:1009-1014, 1980. [PubMed: 6989970]
    Index Terms: Carbohydrate intolerance in TS
  • Press F, Shapiro H M, Cowell C A, Oliver G D.: Outcome of ovum donation in Turner''s syndrome patients. Fert. Steril. 64:995-998, 1995. [PubMed: 7589649]
    The results are encouraging!
  • Price W H, Clayton J F, Collyer S, De Mey R, Wilson J: Mortality ratios, life expectancy, and causes of death in patients with Turner''s syndrome. J. Epidemiol. Comm. Hth. 40:97-102, 1986. [PMC free article: PMC1052501] [PubMed: 3746185]
    Price W H, Lauder I J, Wilson J: The electrocardiogram and sex chromosome aneuploidy. Clin. Genet. 6:1-14, 1974. [PubMed: 4426125]
    "It is confirmed that in 47,XYY males the atrioventricular conduction is delayed and that in 45,X females it is accelerated."
    Index Terms: ECG in TS
  • Price W H, Wilson J: Dissection of the aorta in Turner''s syndrome. J. Med. Genet. 20:61-63, 1983. [PMC free article: PMC1048988] [PubMed: 6842536]
    Index Terms: Aorta ... dissection of, in TS
  • Puck M H: Some considerations bearing on the doctrine of self-fulfilling prophecy in sex chromosome aneuploidy. AJMG 9:129-137, 1981. [PubMed: 7258226]
  • Quilter C R, Taylor K, Conway G S, Nathwani N, Delhanty J D A.: Cytogenetic and molecular investigations of Y chromosome sequences and their role in Turner syndrome. Ann. Hum. Genet. 62:99-106, 1998. [PubMed: 9759471]
    Patient HE=mos45,X/46,X,del(Y)(q11.2)[8%].,Patient NT=mos45,X/46,X,idic(Y)(q11.2)[3%].,Patient LB=mos45,X/46,X,idic(Y)(p11.3)[30%].,Patient CS=mos45,X,inv(5)(p14q11.2)/47,X,idic(Y)(p11.3),,+idic(Y)(p11.3),inv(5)(p14q11.2)[6% in blood, 26% in gonads].,Patient CW=mos45,X/46,XY[88%].,Patient EH=mos45,X/46,XY[93%].
    50 Turner syndrome patients with 45,X were studied. Eight Y chromosome loci were tested: SRY, DYS251, DYS264, DYS268, DYZ3, DYS272, DYS219, and DYS240.
    This excellent study points to the importance of the need to identify the Y chromosome sequences in Turner syndrome patients.
  • Qumsiyeh M B, Tharapel A T, Shulman L P, Simpson J L, Elias S: Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi. J. Med. Genet. 27:780-781, 1990. [PMC free article: PMC1017282] [PubMed: 2074563]
  • Same entry as in 0Yp112 (Radhakrishna et al, 1991).

  • Raiti S: Effects of human growth hormone therapy in Turner''s syndrome. Ped. Adolesc. Endocr. 16:122-128, 1987.
    Raiti S, Moore W V, Van Vilet G, Kaplan S L: Growth-stimulating effects of human growth hormone therapy in patients with Turner syndrome. J. Ped. 109:944-949, 1986. [PubMed: 3537250]
    Index Terms: Growth hormone therapy in TS
  • Raju U, Fine G, Warrier R, Kini R, Weiss L: Correction Am. J. Surg. Path. 10:740, 1986,1986. [PubMed: 3740351]
    Patient was followed after 5 years.
    mos45,X/46,XY.
    Index Terms: Juvenile granulosa cell tumor
  • Ranke M B, Stubbe P, Majewski F, Bierich J R: Spontaneous growth in Turner''s syndrome. Acta Paed. Scand. (Suppl.) 343:22-30, 1988. [PubMed: 3195332]
    Based on a study of 150 patients whose spontaneous growth was observed, standards of height and height velocity (means and SDs) were calculated. It appears that GH deficiency does not play a primary role.
  • Reddy K S, Sulcova V.: Pathogenetics of 45,X/46,XY gonadal dysgenesis. Cytogenet. Cell Genet. 82:52-57, 1998. [PubMed: 9763660]
    Five patients with varying degrees of mosaicism were investigated.
    Two had Turner syndrome, two had ambiguous genitalia, and one male had infertility with an atrophic testis.
  • Rehder H, Melcher T: Dysgerminoma in Turner''s syndrome. Beitr. Pathol. Bd. 157:251-259, 1976. [PubMed: 1275866]
    No Y chromosome containing stem-line was found. Dysgerminoma is rare in the absence of Y chromosome material.
    Index Terms: Dysgerminoma,Turner syndrome
  • Reindollar R H, Byrd J R, Hahn D H, Haseltine F P, McDonough P G: A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex: mosaicism versus chimerism. Fert. Ster. 47:626-633, 1987. [PubMed: 3569546]
    Mother J.M. and her twins: A.(D.M.) and B.(T.M.).
    Index Terms: MZ twins ... in Turner syndrome
  • Reiss A L, Mazzocco M M M, Greenlaw R, Freund L S, Ross J L.: Neurodevelopmental effects of X monosomy: a volumetric imaging study. Ann. Neurol. 38:731-738, 1995. [PubMed: 7486864]
    Romans S M, Stefanatos G, Roeltgen D P, Kushner H, Ross J L. : Transition to young adulthood in Ullrich-Turner syndrome: Neurodevelopmental changes. AJMG 79:140-147, 1998. [PubMed: 9741472]
    27 non-mosaic and 3 mosaics were studied.
    mos45,X/46,XX
    The TS patients performed poorly on visual-spatial and intellectual measures and as having more problems in attention and social behaviors.
    In general, girls with TS had a smaller proportion of tissue (gray and white) witihin the right and left parietal regions, and a larger proportion of tissue within the right inferior parietal-occipital region relative to girls in the control group.
    Index Terms: Neurodevelopmental effects
  • Reuss A, Pijpers L, Schampers P T F M, Wladimiroff J W, Sachs E S: The importance of chorionic villous sampling after first trimester diagnosis of cystic hygroma. Prenat. Diag. 7:299-301, 1987. [PubMed: 3295848]
  • Rivelis C F, Coco R, Bergada C: Ovarian differentiation in Turner''s syndrome. J. Genet. Hum. 26:69-83, 1978. [PubMed: 670938]
    After a study of a number of cases with varied karyotypes it is concluded that in Turner syndrome there exists an ovarian dysgenesis which is probably caused by early involution before reacting the maturation, conditioned by the genetic incapacity of the oogonia to complete the meiotic prophase.
  • Same entry as in 0Yq110 (Rivera et al, 1993).

  • Riviere L, Serville F D, Schmitt B, Roger P: Dysgenesie gonadique et anomalies chromosomiques a deux generations successives. Ann. Endocrinol. 40:427-428, 1979. [PubMed: 518023]
  • Robinow M, Spisso K, Buschi A J, Brenbridge A N A G: Turner syndrome: Sonography showing fetal hydrops simulating hydramnios. Am. J. Roent. 135:846-848, 1980. [PubMed: 6778125]
    Index Terms: Hydrops
  • Robinson D O, Dalton P, Jacobs P A, Mosse K, Power M M, Skuse D H, Crolla J A.: A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J. Med. Genet. 36:279-284, 1999. [PMC free article: PMC1734352] [PubMed: 10227393]
    Case Nos. 95/2899, 96/6937, 96/7949, 96/8698, 95/2580, 95/2553, 95/2900, 96/5408, 96/7171, 95/4323, 96/8253, 95/4053, 97/1158, and 97/2598.
    Mostly mos45,X/46,X,idic(Y) or psu dic(Y) and other Y anomalies.
    12 cases described earlier by Jacobs et al (1997). Results suggest that the great majority contain two copies of functional Y chromosome euchromatin.
  • Robinson W P, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder E A, Schinzel A A.: Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. AJHG 56:444-451, 1995. [PMC free article: PMC1801123] [PubMed: 7847381]
    14 cases of mos45,X/46,XX and 2 cases of 45,X/47,XXX were studied.
    Index Terms: Mosaicism
  • Same entry as in 0Xp110 (Robson L et al, 1994).

  • Rogers P A W, Murphy C R, Leeton J, Hosie M J, Beaton L: Turner''s syndrome patients lack tight junctions between uterine epithelial cells. Hum. Reprod. 7:883-885, 1992. [PubMed: 1500490]
    Index Terms: Uterine epithelial cells
  • Rohrer T R, Gassmann K F, Rauch A, Pfeiffer R A, Doerr H G.: Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life. AJMG DOI=10.1002/ajmg.a.20446; 126A:78-83, 2004. [PubMed: 15039976]
    Index Terms: MZ twins and TS
  • Same entry as in 0Yq110 (Roland B et al, 1990).

  • Same entry as in 0Xp110 (Ropers et al, 1981).

  • Rosenberg C, Frota-Pessoa O, Vianna-Morgante A M, Chu T H: Phenotypic spectrum of 45,X/46,XY individuals. AJMG 27:553-559, 1987. [PubMed: 3631129]
  • Rosenfeld R G: Update on growth hormone therapy for Turner''s syndrome. Acta Paed. Scand. Suppl. 356:103-108, 1989. [PubMed: 2683569]
    Rosenfeld R G: Turner syndrome: a guide for physicians. The Turner Syndrome Society. 23pp., 1989.
    Rosenfeld R G: Reply. J. Ped. 122:671-672, 1993.
    Rosenfeld R G, Hintz R L, Johanson A J, Brasel J A, Burstein S, Chernausek S D, Clabots T, Frane J, Gotlin R W, Kuntze J, Lippe B M, Mahoney P C, Moore W V, New M I, Saenger P, Stoner E, Sybert V: Methionyl human growth hormone and oxandrolone in Turner syndrome: Preliminary results of a prospective randomized trial. J. Ped. 109:936-943, 1986. [PubMed: 3537249]
    Rosenfeld R G, Hintz R L, Johanson A J, Sherman B, the Genentech Collaborative Group: Results from the first 2 years of a clinical trial with recombinant DNA-derived Human growth hormone (Somatrem) in Turner''s syndrome. Acta Paed. Scand. Suppl. 331:59-66, 1987. [PubMed: 3300157]
    Rosenfeld R G.: Reply. J. Pediat. 133:803-804, 1998.
    Rosenfeld R L, Perovic N, Devine N, Mauras N, Moshang T, Root A W, Sy J P.: Optimizing estrogen replacement treatment in Turner syndrome. Pediatr. 102:486-488, 1998. [PubMed: 9685449]
    Van Vliet G, Deal C.: Growth hormone supplementation in Turner''s syndrome. J. Pediat. 133:803, 1998. [PubMed: 9843362]
    Vliet G V, Collu R: Treatment of Turner syndrome with growth hormone. J. Ped. 122:671, 1993. [PubMed: 8463926]
    The study indicates that both hGH and Oxandrolone can increase final adult height.
    The use of very low doses of systemic estradiol to induce puberty before the age of 15 years in TS patients who are treated with GH, instead of using routine estrogen therapy, can result in increased final heights.
    Index Terms: Growth hormone
  • Rosen G F, Vermesh M, d''Ablaing G III, Wachtel S S, Lobo R A: The endocrinologic evaluation of a 45,X true hermaphrodite. Am. J. Obst. Gynecol. 157:1272-1273, 1987. [PubMed: 3688088]
    Index Terms: Hermaphrodism ... true,Turner syndrome
  • Ross J L, Cassorla F G, Skerda M C, Valk I M, Loriaux D L, Cutler G B: A preliminary study of the effect of estrogen dose on growth in Turner''s syndrome. NEJM 309:1104-1106, 1983. [PubMed: 6684731]
    Index Terms: Estrogen
  • Ross J L, Feuillan P, Long L M, Kowal K, Kushner H, Cutler G B.: Lipid abnormalities in Turner syndrome. J. Pediat. 126:242-245, 1995. [PubMed: 7844670]
    It appears that TS patients have increased cholesterol levels.

    Ross J L, Long L M, Skerda M C, Cassorla F G, Kurtz D, Loriaux L, Cutler G B: Effect of low doses of estradiol on 6-month growth rates and predicted height in patients with Turner syndrome. J. Ped. 109:950-953, 1986. [PubMed: 3537251]
    Index Terms: Height,Lipid
  • Ross J L, Kushner H, Roeltgen D P.: Developmental changes in motor function in girls with Turner syndrome. Ped. Neurol. 15:317-322, 1996. [PubMed: 8972531]
    Deficiency in motor development, decreased sense of athletic ability and physical image was noted in TS patients.

    Ross J L, Kushner H, Zinn A R.: Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile. AJMG 72:275-280, 1997. [PubMed: 9332653]
    Ross J L, Roeltgen D, Kushner H, Wei F, Zinn A R.: The Turner syndrome-associated neurocognitive phenotype maps to distal Xp. AJHG 67:672-681, 2000. [PMC free article: PMC1287527] [PubMed: 10931762]
    Ross J L, Stefanatos G, Roeltgen D, Kushner H, Cutler G B, Jr.: Ullrich-Turner syndrome: neurodevelopmental changes from childhood through adolescence. AJMG 58:74-82, 1995. [PubMed: 7573160]
    Significant differences were found in the 56 patients and 100 controls.
    Index Terms: Motor function
  • Rovet J, Szekely C, Hockenberry M N.: Specific arithmetic calculation deficits in children with Turner syndrome. J. Clin. Exper. Neuropsychol. 16:820-839, 1994. [PubMed: 7890818]
    45 girls with TS and 92 age-matched controls were studied.
    It was concluded that arithmetic difficulties in TS were due to less adequate procedural skills, combined with poorer fact retrieval in timed testing situations, rather than to inadequate visual-spatial abilities.
    Index Terms: Arithmetic calculation deficit
  • Rubin C H, Williams J III, Wang B B T: Discrepancy in mosaic findings between chorionic villi and amniocytes: a diagnostic dilemma involving 45,X, 46,XY, and 47,XYY cell lines. AJMG 46:457-459, 1993. [PubMed: 8357023]
    Villi:mos45,X(6)/46,XY(19)-direct.&Villi:mos45,X(48)/46,XY(63)-cultured.&Amniocytes:mos46,XY(200)/47,XYY(7).&Placenta:mos45,X(4)/46,XY(193)/47,XYY(3).&Umbilical cord:mos46,XY(90)/47,XYY(10).&Foreskin:mos46,XY(89)/47,XYY(11).&Peripheral blood lymphocytes:mos46,XY(84)/47,XYY(16).
    Phenotypically normal male infant was delivered.
    Cell selection in post zygotic development was suggested explanation for the different percentages seen.
    Index Terms: Mosaicism
  • Rutgers J L: Advances in the pathology of intersex conditions. Hum. Path. 22:884-891, 1991. [PubMed: 1916748]
  • Rutlin E, Wisloff F, Myren J, Serck-Hanssen A: Intestinal telangiectasia in Turner''s syndrome. Endoscopy 13:86-87, 1981. [PubMed: 6971752]
    A 37 year old patient is described. It is suggested that endoscopy should be performed even if there are no signs of active gastrointestinal bleeding.
    Index Terms: Telangiectasiae ... intestinal,Turner syndrome
  • Same entry as in 0Xp223 (Sachs E S et al, 1992).

  • Saenger P.: Turner''s syndrome. NEJM 335:1749-1754, 1996. [PubMed: 8929268]
    A good review about this condition, including management, treatment and counseling.
  • Sagi M, Meiner V, Reshef N, Dagan J, Zlotogora J.: Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination. Prenat. Diag. 21:461-465, 2001. [PubMed: 11438950]
    5/5 terminated
  • Sano M, Saito F, Yamamoto K, Tonomura A, Tsukagoshi H: Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution. Jpn. J. Hum. Genet. 32:257-262, 1987. [PubMed: 3448308]
    Patient was 23 years old.
    mos45,X/46,XX.
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
  • Sarkar R, Marimuthu K M: Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics. Clin. Genet. 24:420-428, 1983. [PubMed: 6652955]
    Index Terms: Mosaicism
  • Sas T, Cromme-Dijkhuis A, de Muinck Keizer-Schrama S M, Stijnen T, van Teunenbroek A, Drop S, The Dutch working group on Growth Hormone.: The effects of long-term growth hormone treatment on cardiac left ventricular dimensions and blood pressure in girls with Turner''s syndrome. J. Pediat. 135:470-476, 1999. [PubMed: 10518081]
    Sas Th C J, de Muinck Keizer-Schrama S M P F, Stijnen Th, van Teunenbroek A, Hokken-Koelega A C S, Waelkens J J J, Massa G G, Vulsma Th, Gerver W J, Reeser H M, Delemarre-van de Waal H E, Jansen M, Drop S L S, and the Dutch Advisory Group on Growth Hormone.: Final height in girls with Turner''s syndrome treated with once or twice daily growth hormone injections. Arch. Dis. Childh. 80:36-41, 1999. [PMC free article: PMC1717808] [PubMed: 10325756]
    Sas et al suggest that treatment with a GH dose of 6 IU/m2/day in combination with low dose oestrogens can result in a significant increase in adult height in girls with Turner syndrome.
    Index Terms: Final Height in TS
  • Savanelli A, Orfeo L, Stabile M, Iannuzzi S, De Bellis U, Esposito G, Ventruto V: Prune belly appearance in a Turner subject. J. Med. Genet. 23:92-93, 1986. [PMC free article: PMC1049554] [PubMed: 3950945]
    Index Terms: Prune belly appearance in Turner syndrome
  • Sawyer J R, Swanson C M, Lukacs J L, Hassed S J, Curtis M A, North P E, Kozlowski K J, Pihoker C.: Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich-Turner syndrome. AJMG 69:383-387, 1997. [PubMed: 9098487]
    The patient was evaluated at 10.6 years for short stature.
    Blood:mos45,X(15 cells)/46,X,tas(Y;21)(q12;p13)(15 cells)de novo.,Skin:mos45,X(35 cells)/46,X,tas(Y;21)(15 cells).,Fascia:mos45,X(44 cells)/46,X,tas(Y;21)(6 cells).,Peritonium:mos45,X(42 cells)/46,X,tas(Y;21)(8 cells).,Right gonadal tissue:mos45,X(45 cells)/46,X,tas(Y;21)(5 cells).,Left gonadal tisuue:mos45,X(23 cells)/46,X,tas(Y;21)(3 cells)/45,X,tas(Y;21),-22(20 cells)/46,X,tas(Y;21),+tas(Y;21),-22(4 cells).
    There was no histologic evidence of malignant transformation.
    Paternity testing confirmed the interpretation.
    Index Terms: Telomeric fusion
  • Scarfi M R, Prisco F, Bersani F, Lioi M B, Zeni O, Di Pietro R, Franceschi C, Motta M, Iafusco D, Stoppoloni G.: Spontaneous and mitomycin-C-induced micronuclei in lymphocytes from subjects affected by Turner''s syndrome. Mut. Res. 357:183-190, 1996. [PubMed: 8876693]
  • Schinzel A, Robinson W P, Binkert F, Torresani T, Werder E A: Exclusively paternal X chromosomes in a girl with short stature. Hum. Genet. 92:175-178, 1993. [PubMed: 8370585]
    mos45,X/46,XX.
    Patient was 14 years old.
    Index Terms: Short stature,Paternal X
  • Same entry as in 07q110 (Schmid et al, 1986).

  • Schmidt C L, Epstein J A, Sarosi P, Wolman S R, Weiss G: Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism. Am. J. Obst. Gynecol. 144:601-607, 1982. [PubMed: 6814256]
    mos45,X(5%)/46,XX(83%)/47,XXX(3%).
    Index Terms: Isolated follicle-stimulating hormone deficiency
  • Schorry E K, Lovell A M, Milatovich A, Saal H M.: Ullrich-Turner syndrome and neurofibromatosis-1. AJMG 66:423-425, 1996. [PubMed: 8989459]
    Patient 1:
    mos45,X(14%)/46,XY(86%).
    The patient, 12 years old, had NF1 and several of the characteristics of UTS and mixed gonadal dysgenesis.
    Patient 2:
    45,X
    This infant was found to have several of the characteristics of both the syndromes.
    The was a product of ''biracial'' parents.
    MIM#: 162200
    Index Terms: UTS and NF1
  • Schwanitz G, Zerres K, Gembruch U, Bald R, Hansmann M: Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli. Hum. Genet. 84:81-82, 1989. [PubMed: 2606481]
    Index Terms: Hygroma colli,Hydrops
  • Schwartz S, Raffel L J: Prenatal detection of 45,X/46,XX/47,XXX mosaicism through amniocentesis: mosaicism confirmed in cord blood, amnion, and chorion. Prenat. Diag. 12:1043-1046, 1992. [PubMed: 1283786]
    mos45,X(11%)/46,XX(69%)/47,XXX(20%)-cord blood.&mos45,X(23%)/46,XX(61%)/47,XXX(16%)-amnion.&mos45,X(2%)/46,XX(57%)/47,XXX(41%)-chorion.
    The mother had amniocentesis because of her age (35 years). The infant followed till 2.5 years revealed no phenotypic abnormalities.
  • Schwarze C P, Arens D, Haber H P, Wollmann H A, Binder G, Mayer E I E, Ranke M B.: Bone age in 116 untreated patients with Turner''s syndrome rated by a compter-assisted method (CASAS). Acta Paediat. 87:1146-1150, 1998. [PubMed: 9846916]
    Bone age was found to be retarded from the chronological age of 3 to 6 y. Between the ages of 7 and 12 y bone age almost equalled chronological age and progressed normally at a rate of 1 y y-1. Bone maturation slowed down thereafter and epiphyseal closure was not reached before the age of 17 y. Reference data are presented on bone age and a bone age maturation curve for untreated patients with TS to be used in clinical practice.
    Index Terms: Bone age in TS,CASAS
  • Same entry as in +21 (Scott et al, 1996).

  • Same entry as in 05p140 (Seidel et al, 1981).

  • Seresevskij N A: In relation to the question of a connection between congenital abnormalities and endocrinopathies. The Russian Endocrinological Society on the 12th November, 1925.
    Apparently the 25 year old patient with short stature, could be the first case with this chromosomal anomaly later called Turner syndrome. Nomenclature problems discussed by Lonberg, N. C. and H. Nielson, J.: Seresevski-Turner''s syndrome or Turner''s syndrome. Hum. Genet. 38:363-364, 1977.
    Index Terms: Shereshevsky syndrome,Stature ... short (low),Turner syndrome
  • Same entry as in 18+ (Serville F D et al, 1977).

  • Shawker T H, Garra B S, Loriaux D L, Cutler G B, Ross J L: Ultrasonography of Turner''s syndrome. J. Ultrasound Med. 5:125-129, 1986. [PubMed: 3517358]
    Pelvic ultrasonography showed absence of ovaries, it could be used as a screening test for females with short stature, primary amenorrhea, and delayed onset of puberty.
    Index Terms: Ultrasonography pelvic in Turner syndrome
  • Same entry as in 0Xp112 (Shulman L P et al, 1989).

  • Simpson J L, Lebeau M M: "Gonadal and statural determinants on the X chromosome and their relationship to in vitro studies showing prolonged cell cycles in 45,X; 46,X,del(X)(p11); 46,X,del(X)(q13); and 46,X,del(X)(q22) fibroblasts." Am. J. Obst. Gynecol. 141:930-940, 1981. [PubMed: 7315923]
    Suggestions are made that (1) both Xp and Xq are necessary to assure normal ovarian development, although (2) persisting ovarian function is not infrequently associated with either del(X)(p11) or del(Xq)(13,21,22, or 24). (3) Ovarian determinants on Xp are localized to region Xp11. (4) Both Xp and Xq contain statural determinants, the former localized to region Xp21 -> Xpter.
  • Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J, on behalf of the Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party.: The predictive value of findings of the common aneuploidies, trisomies 13, 18, and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study. Prenat. Diag. 19:817-826, 1999. [PubMed: 10521838]
    66 cases were studied.
    It was concluded that the highest level of predictive accuracy using cvs can only be achieved if both direct preparation and cell culture are performed. Also, amniocentesis or fetal blood sampling is recommended in case of mosaics.
  • Soudek D, Sroka H: C-bands in seven cases of accessory small chromosomes. Clin. Genet. 12:285-289, 1977. [PubMed: 589849]
    The C-bands of two cases of familial, genetically inactive, accessory small chromosomes and five cases of genetically active chromosomes were examined. Inactive chromosomes consist of constitutive heterochromatin and satellites only. In active chromosomes, euchromatin was present. These chromosomes contained two, one or no C-bands, although all of these chromosomes were morphologically monocentric.
  • Speed R M: Oocyte development in XO foetuses of man and mouse: The possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma 94:115-124, 1986. [PubMed: 3757617]
    It is suggested that in rare fertile 45,X females survival of a population of oocytes is ensured by the ability of the X-axis to pair non-homologously at meiotic prophase, thus satisfying pairing requirements.
  • Staiano A, Salerno M, Di Maio S, Marsullo G, Marino A, Concolino D, Strisciuglio P.: Delayed gastric emptying: a novel gastrointestinal finding in Turner''s syndrome. Arch. Dis. Child. 75:440-443, 199613 . [PMC free article: PMC1511766] [PubMed: 8957960]
    Studies on 13 TS patients suggest that delayed gastric emptying is detectable independent of age, body mass index, karyotype, and growth promoting treatment.
    Index Terms: Gastric emptying
  • Stepan J J, Musilova J, Pacovsky V: Bone demineralization, biochemical indices of bone remodeling, and estrogen replacement therapy in adults with Turner''s syndrome. J. Bone Mineral Res. 4:193-198, 1989. [PubMed: 2786321]
    It is indicated that long-term hormonal replacement therapy is justified in gonadal dysgenesis to prevent further bone mass loss.
  • Same entry as in 0Xp220 (Stetten et al, 1986).

  • Same entry as in 03p250 (Stine et al, 1982).

  • Stratakis C A, Rennert O M.: Turner syndrome: molecular and cytogenetics, dysmorphology, endocrine, and other clinical manifestations and their management. Endocrinologist 4:442-453, 1994.
  • Stuppia L, Calabrese G, Borrelli P, Gatta V, Morizio E, Mingarelli R, Di Gilio M C, Crin+¦ A, Giannotti A, Rappold G A, Palka G.: Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. J. Med. Genet. 36:711-713, 1999. [PMC free article: PMC1734422] [PubMed: 10507731]
    MIM#: 127300
    Index Terms: Leri-Weill dyschondrosteosis
  • Swapp G H, Johnston A W, Watt J L, Couzin D A, Stephen G S: A fertile woman with non-mosaic Turner''s syndrome. Case report and review of the literature. Brit. J. Obst. Gynecol. 96:876-880, 1989. [PubMed: 2669936]
    Index Terms: Fertility
  • Sylven L, Magnusson C, Hagenfeldt K, von Schoultz B: Life with Turner''s syndrome - a psychosocial report from 22 middle-aged women. Acta Endocrinol. 129:188-194, 1993. [PubMed: 8212982]
    Index Terms: Psychosocial
  • Tabor A, Bang J, Philip J: 45,X karyotype: May the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy? Prenat. Diag. 1:281-283, 1981. [PubMed: 6180426]
    Cystic hygromata in Turner syndrome with a normal amniotic fluid AFP were found in three instances.
    Index Terms: Cystic hygroma,Hygromata,AFP
  • Taga M, Minaguchi H, Saotome K.: Two pregnancies in a 45,X/46,X,r(X)/46,XX Turner mosaic patient. A case report. Gynecol. Obstet. Invest. 42:206-208, 1996. [PubMed: 8938476]
    mos45,X(49% and 22%)/46,X,r(X)(17% and 44%)/46,XX(34% and 33%).
    The 27 year old woman had two pregnancies, one ectopic and with another she had a normal boy.
    Index Terms: Pregnancy
  • Same entry as in 0Yq100 (Taillemite et al, 1978).

  • Takagi A, Imai A, Tamaya T.: A novel sex-determining region on Y(SRY) nonsense mutation identified in a 45,X/47,XYY female. Fert. Steril 72:167-169, 1999. [PubMed: 10428169]
    mos45,X[26]/47,XYY[14] in blood.
    Patient was a phenotypic female with Turner syndrome stigmata.
    The patient demonstrated one nucleotide (thymine, T) deletion at position 422, a mutation which changes TAT to TAG (tyrosine), a translation stop signal.
  • Takano K, Shizume K, Hibi I, the members of the committee for the treatment of Turner''s syndrome: Treatment of 80 patients with Turner''s syndrome with recombinant human growth hormone (YM-17798) for one year: The results of a multicentric study in Japan. Endocrinol. Jpn. 36:253-260, 1989,1989. [PubMed: 2673750]
    The results indicate that hGH treatment is useful for the acceleration of growth velocity in patients with Turner syndrome.
    Index Terms: Growth hormone
  • Tang S S, Gao H, Robinson W P, Ho Yuen B, Ma S.: An association between sex chromosomal aneuploidy in sperm and an abortus with 45,X of paternal origin: possible transmission of chromosomal abnormalities through ICSI. Hum. Reprod. 19:147-151, 2004. [PubMed: 14688173]
    Index Terms: ICSI
  • Tejada M I, Mornet E, Tizzano E, Molina M, Baiget M, Boue A: Identification by molecular diagnosis of mosaic Turner''s syndrome in an obligate carrier female for fragile X syndrome. J. Med. Genet. 31:76-78, 1994. [PMC free article: PMC1049607] [PubMed: 8151646]
    mos45,X/46,XX/47,XXX.
  • Temtamy S A, Ghali I, Salam M A, Hussein F H, Ezz E H A A, Salah N: Karyotype/phenotype correlation in females with short stature. Clin. Genet. 41:147-151, 1992. [PubMed: 1563089]
    Index Terms: Short stature
  • Teoh T G, Ryan G, Johnson J A, Winsor E J T.: The role of fetal karyotyping from unconventional sources. AJOG 175:873-877, 1996. [PubMed: 8885739]
    The sources of fluid were pleural, ascitic, pericardial, lung cyst, facial cyst, cystic hygroma and urine.
    Index Terms: Karyotyping unconventional sources
  • Thompson R G: Growth Hormone Therapy in Turner syndrome. Hormone Res. 39 (Suppl. 2):1-72, 1993. [PubMed: 8103032]
    A useful discussion of this treatment results to date.
    Index Terms: Growth hormone treatment in Turner syndrome
  • Same entry as in 05p130 (Tolksdorf et al, 1980).

  • Toublanc J E, Mura C, Andre C: Syndrome de Turner et syndrome de Rokitansky-Kuster-Hauser. Association chez une patiente a caryotype 45,X/46,XX. Ann. Ped. 34:43-45, 1987. [PubMed: 3827107]
    Patient: Annabelle G., 190567, was seen at age 16 years and 3 months.
    mos45,X/46,XX.
    MIM#: 277000
    Index Terms: Rokitansky-Kuster-Hauser syndrome
  • Tsuboi T, Nielsen J, Nagayama I: Turner''s syndrome: a qualitative and quantitative analysis of EEG background activity. Hum. Genet. 78:206-215, 1988. [PubMed: 3346014]
    Index Terms: EEG abnormality ... in Turner Syndrome
  • Tyrkus M, Hoffman W H, Kraemer-Flynn K M: X chromosome instability associated with familial Turner syndrome. Clin. Genet. 35:111-115, 1989. [PubMed: 2721019]
    Patient and her maternal aunt exhibiting Turner syndrome are described with varying anomalies of the X chromosome.
    Index Terms: X chromosome instability
  • Uchida I A, de Sa D J, Whelan D T: 45,X/46,XX mosaicism in discordant monozygotic twins. Pediatrics 71:413-417, 1983. [PubMed: 6572357]
    Index Terms: MZ twins ... in Turner syndrome
  • Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, Kaji M, Yamanaka C, Momoi T, Nakahata T.: Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45, X karyotype. AJMG DOI=10.1002/ajmg.10506; 111:134-139, 2002. [PubMed: 12210339]
    Uematsu A, Yorifuji T, Muroi J, Yamanaka C, Momoi T.: Relatively longer hand in patients with Ullrich-Turner syndrome. AJMG 82:254-256, 1999. [PubMed: 10215550]
    50 patients were studied.
    It was found that the majority of TS karyotypes are caused by paternal meiotic errors that result in maternal X dominance.
    50 patients with TS, and 443 other patients with short stature were studied.
    45,X (n=22) and different mosaics with varying structural aberrations.
    It was concluded that relatively longer hands are a common manifestation of UTS and could be used for karyotypic evaluation among short females.
    Index Terms: Hand length in TS
  • Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, Kaji M, Yamanaka C, Momoi T, Nakahata T.: Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45, X karyotype. AJMG DOI=10.1002/ajmg.10506; 111:134-139, 2002. [PubMed: 12210339]
    YorifujiT, Muroi J, Kawai M, Uematsu A, Sasaki H, Momoi T, Kaji M, Yamanaka C, Furusho K.: Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. J. Med. Genet. 35:539-544, 1998. [PMC free article: PMC1051363] [PubMed: 9678697]
    No.1:mos45,X/46,X,+mar(X)(?p11?q13.2)[89/11].,No. 2:mos45,X/46,X,r(X)(?p22.11?q23.3)[88/12].,No. 3:mos45,X/46,X,r(X)(p22.1q25)[89/9].,No. 4:mos45,X/46,X,mar(X)(?p11?q13).,No. 5:mos45,X/46,X,+mar(X)(?p21?q23)[56:44].,No. 6:mos45,X/46,X,r(X)/46,X,dic r(X)/47,X,dic r(X),dic r(X),[46/51/2/1].
    Functional X disomy may be a cause of MR in TS.
    Index Terms: UPD
  • Van Dyke D L, Wiktor A, Palmer C G, Miller D A, Witt M, Babu V R, Worsham M J, Roberson J R, Weiss L: Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. AJMG 43:996-1005, 1992. [PubMed: 1415351]
    Van Dyke D L, Wiktor A, Roberson J R, Weiss L: Mental retardation in Turner syndrome. J. Pediat. 118:415-417, 1991. [PubMed: 1999783]
    Wiktor A, Van Dyke D L.: FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet. in Med. 6:132-135, 2004. [PubMed: 15354330]
    174 patients with various chromosomal abnormalities were studied.
    It was found that patients with small ring (X) chromosomes were at an increased risk for MR.
    Karyotypic study (2004) was done on 53 samples. FISH was performed on 19 cases with an apparently non-mosaic 45,X karyotype. 16 (36%) exhibited numerical mosaicism involving the X chromosome, 4 had an isochromosome X, 2 had a deletion of the short arm of the X chromosome (p11.2 and q21.1), and 5 had a ring X chromosome [r(X)(p22.3q23);r(X)(p22.3q24);r(X)(p11q11)]. Mosaicism with a structurally normal Y chromosome was seen in 3 cases, 2 had a idic (Y)(q11.2) , and one case of a minute r(Y).
    Index Terms: Mental retardation
  • van Wassenaer A G, Lubbers L J, Losekoot G: Partial abnormal pulmonary venous return in Turner syndrome. Europ. J. Ped. 148:101-103, 1988. [PubMed: 3069469]
    Three patients, ranging in age from 3 to 8 years, are presented.
    Index Terms: Pulmonary venous return
  • Same entry as in 0Xp210 (Varela M et al, 1991).

  • Varrela J, Alvesalo L, Mayhall J: Taurodontism in 45,X females. J. Dent. Res. 69:494-495, 1990. [PubMed: 2307752]
    Index Terms: Taurodontism
  • Verp M S, Amarose A P: Inflammatory bowel disease and X chromosome abnormalities. A case report. J. Reprod. Med. 32:466-468, 1987. [PubMed: 3612638]
    Verp M S, Rosinsky B, Le Beau M M, Martin A O, Kaplan R, Wallemark C B, Otano L, Simpson J L: Growth disadvantage of 45,X and 46,X,del(X)(p11) fibroblasts. Clin. Genet. 33:277-285, 1988. [PubMed: 3359684]
    Patient was 25 years old and had 3 miscarriages.
    mos45,X/46,XX.
  • Verp M S, Sheikh Z, Amarose A P, Cibils L A: Cystic hygroma and 45,X/46,XY mosaicism. AJMG 33:402-404, 1989. [PubMed: 2679092]
    Index Terms: Cystic hygroma
  • Verschraegen-Spae M R, Depypere H, Speleman F, Dhondt M, De Paepe A: Familial Turner syndrome. Clin. Genet. 41:218-220, 1992. [PubMed: 1576760]
    Mother=mos45,X(17%)/46,XX(83%).&Proband=mos45,X(18%)/46,X,del(X)(82%)-blood.&Proband=46,X,del(X)(p11)-ovarian tissue.
    It is suggested that Xp11 is crucial for gonadal function.
    Index Terms: Fertility
  • Vidgoff J: Excess paternal meiotic errors in Turner syndrome: natural result of ascertainment bias. Hum. Genet. 67:347-348, 1984. [PubMed: 6469244]
  • Same entry as in 45,X/47,XX,+21 (Villaverde and da, 1975).

  • von Kap-herr C, Kelly T E, Golden W L: Uncultured blood smears hybridized with alpha satellite probes to diagnose 45,X in spontaneously aborted fetuses. AJMG 44:394-397, 1992. [PubMed: 1488996]
  • Waibel F, Scherer G, Fraccaro M, Hustinx T W J, Weissenbach J, Wieland J, Mayerova A, Back E, Wolf U: Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis. Hum. Genet. 76:332-336, 1987. [PubMed: 3038732]
    Index Terms: Gonadal dysgenesis,Hermaphrodism ... true
  • Walker K, Gunn A J, Gluckman P D: XO/XY mosaicism in phenotypic males. Arch. Dis. Childhood 65:891-892, 1990. [PMC free article: PMC1792467] [PubMed: 2400229]
    Eight cases are presented.
    mos45,X/46,XY
    Four were phenotypic males.
    It is suggested that karyotyping be done on short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.
    Index Terms: Growth hormone,Carcinoma ... in situ
  • Same entry as in 0Xq210 (Wang S G et al, 1988).

  • Warburton D, Kline J, Stein Z, Susser M: Monosomy X: A chromosomal anomaly associated with young maternal age. Lancet 1:167-169, 1980. [PubMed: 6101630]
    On the basis of a study of 16 monosomy X cases among 6,262 births it is hypothesized that the association observed between young maternal age and 45,X births may be intrinsic to pregnancies of young woman or it may be due to experiences which are commoner in young women.
    Index Terms: Maternal ... age in Turner syndrome
  • Same entry as in 13+ (Wax J R et al, 1992).

  • Wax J R, Prabhakar G, Giraldez R A, Hutchins G M, Stetten G, Blakemore K J: Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism. Am. J. Perinat. 11:184-186, 1994. [PubMed: 8048981]
    45,X - CVS.&mos45,X/46,XY - placenta, newborn blood, skin, and right kidney.
    The case was ascertained at third trimester with oligohydramnios and asymmetrical growth retardation. Baby died at 11 months of age.
    Index Terms: Renal ... hypoplasia
  • Webber M L, Puck M H, Maresh M M, Goad W B, Robinson A: Skeletal maturation of children with sex chromosome abnormalities. Ped. Res. 16:343-346, 1982. [PubMed: 7099753]
    Bone age may be different in 45,X patients than the chronological age, but not in 47,XXX and 47,XXY patients.
    Index Terms: Bone age in Turner syndrome
  • Weeks A D, Davies N P, Sprigg A, Fairlie F M.: The sequential in utero death of heterokaryotic monozygotic twins. A case report and literature review. Prenat. Diag. 16:657-663, 1996. [PubMed: 8843477]
    Ultrasound examination at 15 weeks in a case of MZ twins in a 19 year old primigravida showed one to have cystic hygroma and hydrops fetalis.
    .
    At 26 weeks this twin died. The second twin pregnancy was terminated at 29 weeks after detection of abnormal intracranial anatomy including multiple echo-poor cystic areas.
    Index Terms: Twins ... MZ
  • Same entry as in 0Xp223 (Weil et al, 1993).

  • Weiss E, Loevy H T, Saunders A, Pruzansky S, Rosenthal I M: Monozygotic twins discordant for Ullrich-Turner syndrome. AJMG 13:389-399, 1982. [PubMed: 6891562]
    Index Terms: MZ twins ... in Turner syndrome
  • Weiss L A, Purcell S, Waggoner S, Lawrence K, Spektor D, Daly M J, Sklar P, Skuse D.: Identification of EFHC2 as a quantitative trait locus for fear recgnition in Turner syndrome. Hum. Mol. Genet. 16: 107-113, 2007. [PubMed: 17164267]
    Index Terms: EFHC2, Fear recognition in TS
  • Same entry as in 48,XXXY (Welch and Sparkes, 1981).

  • Wheeler M, Peakman D C, Robinson A, Henry G: 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis. AJMG 29:565-571, 1988. [PubMed: 3376999]
    It is concluded that the phenotype of 45,X/46,XY mosaicism in prenatally diagnosed fetuses can be markedly different from that of individuals diagnosed postnatally.
    mos45,X/46,XY.
  • Williamson R A, Weiner C P, Patil S R, Benda J, Varner M W, Abu-Yousef M M: Abnormal pregnancy sonogram: selective indication for fetal karyotype. Obst. Gynecol. 69:15-20, 1987. [PubMed: 3540760]
    13 out of 41 fetuses had chromosome anomalies. Only seven survived.
  • Same entry as in 13+ (Wilson et al, 1992).

  • Wilton P: Growth hormone treatment in girls with Turner''s syndrome. Acta Paed. Scand. 76:193-200, 1987. [PubMed: 3296625]
    It appears that a combined treatment regimen with growth hormone and an anabolic steroid results in a gain of 3 cm/year. However, the impact of this treatment on the final height has not yet been established.
  • Winston Y E, Horger E O III, Van Dorsten J P: Low serum alpha-fetoprotein level and sex chromosome monosomy. Am. J. Obstet. Gynecol. 159:186-187, 1988. [PubMed: 2456014]
  • Same entry as in 0Yq100 (Winters et al, 1975).

  • Wolf U, Fraccaro M, Mayerova A, Hecht T, Zuffardi O, Hameister H: Turner syndrome patients are H-Y positive. Hum. Genet. 54:315-318, 1980. [PubMed: 7399526]
  • Wray H L, Freeman M V R, Ming P M L: Pregnancy in the Turner syndrome with only 45,X chromosomal constitution. Fert. Ster. 35:509-514, 1981. [PubMed: 7227566]
    Patient was 31 years old, had two normal daughters at ages 23 and 26. Was studied because of possible hypopituitarism with a height of 127 cm.
    Index Terms: Hypopituitarism
  • Wydner K L, Li M, Singer-Granick C, Sciorra L J, Krueger L J.: X microchromosome with additional chromosome anomalies found in Ullrich-Turner syndrome. AJMG 56:141-146, 1995. [PubMed: 7625435]
    Patient K.M.
    mos45,X/46,XXq+/46,X,+mar(X)/47,XXq+,+mar(X).
    Patient was referred at 12 1/2 years of age because of shortness of stature (119.3 cm).
  • Yaron Y, Yovel I, Ochshorn Y, Kogosowski A, Amit A, Lessing J B.: Patients with Turner''s syndrome may have an inherent endometrial abnormality affecting receptivity in oocyte donation. Fert. Steril. 65:1249-1252, 1996. [PubMed: 8641509]
    Index Terms: Endometrial abnormality, Oocyte donation
  • Yorifuji T, Muroi J, Kawai M, Sasaki H, Momoi T, Furusho K.: PCR-based detection of mosaicism in Turner syndrome patients. Hum. Genet. 99:62-65, 1997. [PubMed: 9003496]
    Humara (human androgen receptor) assay using three Y-specific primer pairs representing the centromere, Yp11.3, and Yq12 was used. 2/18 patients were found to have a low frequency cryptic X chromosome mosaicism.
    18 patients were studied.
    Using HUMARA (human androgen receptor) assay two i(Xq) mosaics were detected.
  • Yuge A, Takai N, Nishida Y, Narahara H, Miyakawa I.: Spontaneous pregnancy in a 45,X/46,X,r(X) Turner''s mosaic patient. Acta Obstet. Gynecol. Scand. 82:775-776, 2003. [PubMed: 12848654]
    mos45,X[50%]/46,X,r(X)[50%]-blood
    The 28 year-old patient was diagnosed as having TS at the age of 18 years. She menstruated normally and conceived naturally.
    Pregnancy was chromosomally a normal one (46,XX).
    Index Terms: Pregnancy in TS
  • Zinn A R, Page D C, Fisher E M C: Turner syndrome: the case of the missing sex chromosome. Trends in Genet. 9:90-93, 1993. [PubMed: 8488568]
    Zinn A R, Ross J L.: Turner syndrome and haploinsufficiency. Curr. Opin. Genet. Develop. 8:322-327, 1998. [PubMed: 9690998]
  • Zulian F, Schumacher H R, Calore A, Goldsmith D P, Athreya B H.: Juvenile arthritis in Turner''s syndrome: a multicenter study. Clin. Exp. Rheumat. 16:489-494, 1998. [PubMed: 9706435]
    The prevalence of JA was higher in TS.
    Index Terms: Arthritis juvenilein TS
  • Zvulunov A.: Growth hormone treatment in Turner syndrome. Europ. J. Pediat. 153: 919, 1994. [PubMed: 7859797]
    The effect of growth hormone treatment vis-a-vis naevi appearance is discussed.
    Index Terms: Growth hormone treatment
Copyright © 2011-2013, Digamber Borgaonkar.
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