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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-.

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

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  • Al-Kouatly H B, Chasen S T, Gilbert F, Ahner R, Alonso L M, Chervenak F A.: Correlation between rare chromosomal abnormalities and prenatal ultrasound findings. AJMG 10.1002/ajmg.10130;107:197-200, 2002. [PubMed: 11807899]
    Case 4=mos47,XY,+7/46,XY.
    Mother was 37 years old. Dilated renal pelvis was noted at ultrasound during pregnancy and hydronephrosis at birth.
    Index Terms: Hydronephrosis
  • Bartels I, Rauskolb R, Hansmann I: Chromosomal mosaicism of trisomy 7 restricted to chorionic villi. AJMG 25:161-162, 1986. [PubMed: 3799715]
  • Boue J, Boue A, Deluchat C, Perraudin N, Yvert F: Identification of C trisomies in human abortuses. J. Med. Genet. 12:265-268, 1975. [PMC free article: PMC1013287] [PubMed: 1177277]
    Case Nos. 247 and 1184 in this report.
    Frozen cell lines were thawed out and reidentified by Giemsa banding techniques.
  • 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]
  • De Bault L E, Halmi K A: Familial trisomy 7 mosaicism. J. Med. Genet. 12:200-203, 1975. [PMC free article: PMC1013265] [PubMed: 1142382]
    46,XX/47,XX,+7.
    Mother and daughter, with histories of mental illness, were found to have 14% and 9% trisomic cells, respectively.
  • Engel E.: Uniparental disomy: a review of causes and clinical effects. Ann. Genet. 38:113-136, 1995. [PubMed: 8540683]
    UPD has been documented thus far for chromosomes 2, 4-7, 11, 13-14, 20-22, both X''s and the XY pair.

    Engel E.: A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Europ. J. Hum. Genet. 14: 1158-1169, 2006. [PubMed: 16724013]
    Prof. Engel has provided an excellent review (2006).
    Chorionic villi:47,XX,+7.,Placental biopsy (peripheral):mos46,XX/47,XX,+20,t(2;21)(p13;q22).,Other tissues:46,XX
    Upon birth no anomalies were noted.
  • Fritz B, Hallermann C, Olert J, Fuchs B, Bruns M, Aslan M, Schmidt S, Coerdt W, Muntefering H, Rehder H.: Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions. Europ. J. Hum. Genet. 9:539-547, 2001. [PubMed: 11464246]
    Trisomy rate was 68% and of 7 10.7%.
    In 57/60 cases CGH was successful. It is suggested that the contribution of chromosome aberrations to first trimester pregnancy loss is nearly 70%.
    Index Terms: CGH
  • Hassold T J: A cytogenetic study of repeated spontaneous abortions. AJHG 32:723-730, 1980. [PMC free article: PMC1686106] [PubMed: 7424911]
    Hassold T J, Matsuyama A, Newlands I M, Matsuura J S, Jacobs P A, Manuel B, Tsuei J: A cytogenetic study of spontaneous abortions in Hawaii. Ann. Hum. Genet. 41:443-454, 1978. [PubMed: 655633]
    Hassold T J, Warburton D, Kline J, Stein Z: The relationship of maternal age and trisomy among trisomic spontaneous abortions. AJHG 36:1349-1356, 1984. [PMC free article: PMC1684653] [PubMed: 6517056]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Heim S, Mandahl N, Jin Y, Stromblad S, Lindstrom E, Salford L G, Mitelman F: Trisomy 7 and sex chromosome loss in human brain tissue. Cytogenet. Cell Genet. 52:136-138, 1989. [PubMed: 2630185]
    An interesting hypothesis has been put forward regarding the possible relationship of aneuploidy and neoplasm in the brain tissue.
    Index Terms: Brain neoplasm
  • Henderson K G, Shaw T E, Barrett I J, Telenius A H P, Wilson R D, Kalousek D K.: Distribution of mosaicism in human placentae. Hum. Genet. 97:650-654, 1996. [PubMed: 8655147]
    About 2% of pregnancies studied from multiple placental biopsies showed CPM.

    Kalousek D K, Barrett I J, Gartner A B: Spontaneous abortion and confined chromosomal mosaicism. Hum. Genet. 88:642-646, 1992. [PubMed: 1551667]
    mos46,XY/47,XY,+7.
    Index Terms: Mosaicism
  • Hodes M E, Gleiser S, DeRosa G P, Yune H Y, Girod D A, Weaver D D, Palmer C G: Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. J. Craniofac. Genet. Develop. Biol. 1:49-55, 1981. [PubMed: 7341641]
    A low grade mosaicism of trisomy was present in skin fibroblast cultures. Culture-related aneuploidy explanation cannot be ruled out in this case.
    Index Terms: Goldenhar sequence,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Hsu L Y F, Yu M T, Neu R L, Van Dyke D L, Benn P A, Bradshaw C L, Shaffer L G, Higgins R R, Khodr G S, Morton C M, Wang H, Brothman A R, Chadwick D, Disteche C M, Jenkins L S, Kalousek D K, Pantzar T J, Wyatt P.: Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat. Diag. 17:201-242, 1997. [PubMed: 9110367]
    Jenkins D, Martin K, Young I D: Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent ''pseudomosaicism'' at amniocentesis. J. Med. Genet. 30:783-784, 1993. [PMC free article: PMC1016538] [PubMed: 8411076]
    mos46,XY(10)/47,XY,+7(26).
    Patient was 8 years old.
    MIM#: 146150
    Index Terms: Hypomelanosis of Ito
  • Kayser M, Henderson L B, Kreutzman J, Schreck R, Graham J M, Jr.: Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism. AJMG 95:281-284, 2000. [PubMed: 11102936]
    Patient JB was 6 years old.
    Skin at 32 months with slow growth in culture=47,XY,+7[22]/46,X[29].,At 36 months: skin=47,XY,+7[3%],and blood=46,XY[200].
    Management issues are discussed.
    Index Terms: Blaschkolinear skin pigmentary variation
  • Kivirikko S, Salonen R, Salo A, von Koskull H.: Prenatally detected trisomy 7 in a dysmorphic child. Prenat. Diag. 22:541-544;DOI=10.1002/pd.348, 2002. [PubMed: 12124684]
    Amniotic fluid=mos46,XY/47,XY,+7[78%].,Blood from fetus and child=46,XY[100 cells].,Fibroblasts=mos46,XY/47,XY,+7[24 & 36%].
    The newborn child had pigmentary changes and facial asymmetry. At 3 years of age, the boy had developed within normal limits. Dysmorphic features include sparse hair, short left palpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes.
    The 31 year old had prenatal diagnosis because of anxiety.
  • Knuutila S, Larramendy M L, Elfving P, El-Rifai W, Miettinen A, Mitelman F.: Trisomy 7 in non-neoplastic tubular epithelial cells of the kidney. Hum. Genet. 95:149-156, 1995. [PubMed: 7860060]
    Index Terms: Kidney ... epithelial cells
  • Kukharenko V I, Kuliev A M, Grinberg K N, Terskikh V V: Cell cycles in human diploid and aneuploid strains. Humangenetik 24:285-296, 1974. [PubMed: 4280378]
    Kuliev A M, Kukharenko V I, Grinberg K N, Vasileysky S S, Terskikh V V, Stepanova L G: Morphological, autoradiographic, immunochemical and cytochemical investigation of a cell strain with trisomy 7 from a spontaneous abortus. Humangenetik 17:285-296, 1973. [PubMed: 4694510]
    47,XX,+7.&Cell strain LHC-162 was derived from an abortus received at the gestational age of 9 weeks from a 21-year-old mother.
  • Langlois S, Yong S L, Wilson R D, Kwong L C, Kalousek D K.: Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J. Med. Genet. 32:871-875, 1995. [PMC free article: PMC1051738] [PubMed: 8592330]
    Robinson W P, Barrett I J, Bernard L, Telenius A, Bernasconi F, Wilson R D, Best R G, Howard-Peebles P N, Langlois S, Kalousek D K.: Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. AJHG 60:917-927, 1997. [PMC free article: PMC1712477] [PubMed: 9106539]
    47,XX,+7-CVS and placenta;,46,XX-AF and cord blood.
    The 2 year old patient is being followed and is noted to have growth retardation.
    Confined placental mosaicism diagnosis was made.
    8 patients were reported in the 1997 paper.
    Index Terms: Heterodisomy
  • Leschot N J, Schuring-Blom G H, van Prooijen-Knegt A C, Verjaal M, Hansson K, Wolf H, Kanhai H H H, van Vugt J M G, Christiaens G C M L.: The outcome of pregnancies with confined placental chromosome mosaicism in cytotrophoblast cells. Prenat. Diag. 16:705-712, 1996. [PubMed: 8878279]
    Case No. 33 and Ser. No. 1438.
    Cytotrophoblasts:mos46,XY/47,XY,+7(8:3). Fetal cells after abortion:46,XY.
    The pregnancy was terminated because of an X-linked disease.
    Index Terms: CPM
  • Lin C C, De Braekeleer M, Jamro H: Cytogenetic studies in spontaneous abortion: the Calgary experience. Canad. J. Genet. Cytol. 27:565-570, 1985. [PubMed: 4063875]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Lomax B L, Kalousek D K, Kuchinka B D, Barrett I J, Harrison K J, Safavi H: The utilization of interphase cytogenetic analysis for the detection of mosaicism. Hum. Genet. 93:243-247, 1994. [PubMed: 8125474]
    Lomax B L, Lestou V S, Barrett I J, Kalousek D K.: Confined placental mosaicism for chromosome 7 detected by comparative genomic hybridization. Prenat. Diag. 18:752-754, 1998. [PubMed: 9706661]
    Good demonstration of how to use the newer techniques to demonstrate mosaicism.
    Index Terms: Mosaicism
  • Magenis E, Webb M J, Spears B, Opitz J M.: Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism. AJMG 87:375-383, 1999. [PubMed: 10594874]
    Patient was 18 years old with MCA, hypotonia, growth and developmental delay.
    Blood=46,XY.,Skin fibroblasts=mos48,XY,+7,+r(7)[2]/,47,XY,+r(7)[60]/47,XY,+7[56]/46,XY[293].
    At age of 9 years it was recognized that the swirls of pigmentation/depigmentation on his trunk, linear streaks on his limbs, and body asymmetry were suggestive of chromosomal mosaicism.
    Index Terms: Blaschkolinear malformation syndrome
  • McKinley M J, Kearney L U, Nicolaides K H, Rosevear S K, Bradley R, Heron O, Gosden C M: Mosaic trisomy 7 confined to the placenta. AJMG 31:697-699, 1988. [PubMed: 3228150]
  • 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
  • Pflueger S M V, Scott C I, Jr, Moore C M: Trisomy 7 and Potter syndrome. Clin. Genet. 25:543-548, 1984. [PubMed: 6733951]
    mos[88]46,XX/[12]47,XX,+7(skin);blood-46,XX.
    Index Terms: Potter syndrome
  • Reddy K S, Blakemore K J, Stetten G, Corson V L: The significance of trisomy 7 mosaicism in chorionic villus cultures. Prenat. Diag. 10:417-423, 1990. [PubMed: 2235900]
    Two cases are discussed: Case 1 (2061-88) and Case 2 (2092-89).
  • Risch N, Stein Z, Kline J, Warburton D: The relationship between maternal age and chromosome size in autosomal trisomy. AJHG 39:68-78, 1986. [PMC free article: PMC1684020] [PubMed: 3752082]
    26 of these were found.
  • Robinson W P, Bernasconi F, Lau A, McFadden D E.: Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. AJMG 84:34-42, 1999. [PubMed: 10213044]
    12/89 cases:
    47,XX,+7 and 47,XY,+7.
    Index Terms: CPM,Imprinting
  • Sirchia S M, Garagiola I, Colucci G, Guerneri S, Lalatta F, Grimoldi M G, Simoni G.: Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism. Prenat. Diag. 18:201-206, 1998. [PubMed: 9556035]
    Case No. 2:
    CVS-Dir. (cytotrophoblasts)=mos47,XX,+7[11]/46,XX[14].,Long-term mesenchyma culture=46,XX[21].,Amniotic fluid=46,XX[30].
    Markers used were:D7S440, D7S460, D7S461, D7S480, and D7S640.
    Index Terms: CPM,UPD
  • Turleau C, de Grouchy J, Cabanis M O, Nihoul-Fekete C, Dufier J L: Trisomy 7. Internal sexuality (uterus masculinus). Major anomalies of anterior chamber of eye. Ann. Genet. 27:115-117, 1984. [PubMed: 6331788]
    Patient, 240578, survived three months, and had several malformations including severe anomalies of the splenomesenteric vascular system, persistance of Mullerisn ducts, major anomalies of the anterior chamber of eye, and facial dysmorphism.
    47,XY,+7.
    Index Terms: Eye ... anomalies,Facial dysmorphism
  • Verghese S, Newlin A, Miller M, Burton B K.: Mosaic trisomy 7 in a patient with pigmentary abnormalities. AJMG 87:371-374, 1999. [PubMed: 10594873]
    Patient was 4 1/2 years old.
    Blood=46,XY.,Skin fibroblasts=mos47,XY,+7[28]/46,XY[7].
    At the age of 4 years, a marked psychomotor delay was seen, with a developmental age of 9 months. There were multiple dysmorphic features and areas with hyperpigmentation involving trunk, limbs, and chest while sparing the face.
    MIM#: 146150
    Index Terms: Hypermelanosis
  • Verp M S, Amarose A P: Letter to the Editor. AJMG 28:221, 1987. [PubMed: 3674111]
    Verp M S, Amarose A P, Esterly J R, Moawad A H: Mosaic trisomy 7 and renal dysplasia. AJMG 26:139-143, 1987. [PubMed: 3812554]
    Fetal anomalies were noticed on ultrasound examinations at the time of prenatal diagnosis because of advanced maternal age (35 years). They were decreased amount of fluid, hydronephrotic kidneys, abdominal distentation and low set ears.
    mos46,XY(11)/47,XY,+7(41)/46,XY(21).
    Index Terms: Ears ... low-set,Hydronephrosis,Kidney ... malformations
  • Watt A J, Devereux F J, Monk N A, Myers C J, McKinlay Gardner R J: The phenotype in placental trisomy 7. Austr. N. Z. J. Obstet. Gynaecol. 31:246-248, 1991. [PubMed: 1804088]
    mos46,XY(5)/47,XY,+7(3)-in situ. mos46,XY(21)/47,XY,+7(6)-suspension culture. 46,XY(100cells)-blood.,One of three placental samples typed 47,XY,+7.
    The child is normal at 12 weeks.
  • Yunis E, Ramirez E, Uribe J G: Full trisomy 7 and Potter syndrome. Hum. Genet. 54:13-18, 1980. [PubMed: 7390476]
    An immature fetus weighing 1300 g with multiple anomalies including hypertelorism, depressed nasal bridge, low-set ears, micrognathia, short neck, narrow pelvis with positive Ortolani sign, bilateral clubfoot, and hypotonicity. Anal imperforation and abnormal external genitals with atretic vulva, died after two days of respiratory insufficiency. Appears to be a first report of a trisomy 7 in a liveborn.
    Index Terms: Anus ... imperforated,Ears ... low-set,Foot ... talipes equinovarus (club foot),Genitalia ... anomalies,Hypertelorism,Hypotonia,Micrognathia,Neck ... short,Pelvis ... narrow,Potter syndrome
  • Zaragoza M, Millie E, Redline R W, Hassold T J.: Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology? J. Med. Genet. 35:924-931, 1998. [PMC free article: PMC1051486] [PubMed: 9832040]
    15/111 cases were trisomy 7.
    Typically, these were due to postzygotic errors.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106104

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