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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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0Xp223

0Xp22.3
  • Al-Gazali L I, Mueller R F, Caine A, Antoniou, McCartney A, Fitchett M, Dennis N R: "Two 46,X,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3." J. Med. Genet. 27:59-63, 1990. [PMC free article: PMC1016884] [PubMed: 2308157]
    James R S, Coppin B, Dalton P, Dennis N R, Mitchell C, Sharp A J, Skuse D H, Thomas N S, Jacobs P A.: A study of females with deletions of the short arm of the X chromosome. Hum. Genet. 102:507-516, 1998. [PubMed: 9654198]
    Cases 1 and 2.
    46,X,t(X;Y)(p22.3;q11.2).
    Aberration: Simple translocation
    Index Terms: Congenital microphthalmia,Linear skin defects
    Negative band
  • Ballabio A, Carrozzo R, Gil A, Gillard B, Affara N A, Ferguson-Smith M A, Fraser N, Craig I, Rocchi M, Romeo G, Andria G: Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Ann. Hum. Genet. 53:9-14, 1989. [PubMed: 2729897]
    Sargent C A, Briggs H, Chalmers I J, Lambson B, Walker E, Affara N A.: The sequence organization of Yp/proximal Xq homologous regions of the human sex chromosomes is highly conserved. Genomics 32:200-209, 1996. [PubMed: 8833146]
    Also see Bardoni et al., (1991) under 0Yq110.
    Aberration: Reciprocal translocation
    Negative band
  • Baralle D, Willatt L R, Shears D J.: L+¬ri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling. AJMG 95:391-395, 2000. [PubMed: 11186896]
    46,X,t(X:Y)(Xqter->Xp22.3::Yp11.2->Yqter)de novo.
    The patient was 14 years old with short stature and Madelung deformity.
    Aberration: Dicentric chromosome
    MIM#: 127300
    Index Terms: Léri-Weill syndrome, Madelung deformity
    No band
  • Barnes I C S, Curtis D J, Duncan S L B: An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner''s syndrome. J. Med. Genet. 24:428-431, 1987. [PMC free article: PMC1050152] [PubMed: 3612719]
    Patient was 25 years old with gonadal dysgenesis.
    mos45,X/46,X,idic(X)(p22.3).&Mother: mos46,XX(15%)/47,XXX(85%).
    Aberration: Dicentric chromosome
    Index Terms: Gonadal dysgenesis,Turner syndrome
    Negative band
  • Bettio D, Rizzi N, Giardino D.: Familial translocation (X;3)(p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study. Clin. Genet. 46:360-363, 1994. [PubMed: 7889646]
    Garcia-Heras J.: Familial translocation (X;3)(p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study. J. Med. Genet. 50:270-271, 1996. [PubMed: 9001816]
    An alternative explanation has been proposed by Garcia-Heras in this letter.
    The newborn was referred because of slight hypotonia, epicanthic fold, tetralogy of Fallot.
    46,X,der(X)t(X;3)(Xqter->Xp22.3::3p23->3pter)mat.
    The patient died after surgucal complications at 11 months.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-, 3p+
    Index Terms: CISS
    Negative band
  • Bick D, Franco B, Sherins R J, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A: Intragenic deletion of the KALIG-1 gene in Kallmann''s syndrome. NEJM 326:1752-1755, 1992. [PubMed: 1594017]
    Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown C J, Willard H F, Lawrence C, Persico M G, Camerino G, Ballabio A: A gene deleted in Kallmann''s syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353:529-536, 1991. [PubMed: 1922361]
    Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K, Ballabio A, Camerino G: Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nature Genet. 1:337-40, 1992. [PubMed: 1302031]
    Patient A.M.
    t(X;Y).
    Patient is affected with Kallmann syndrome.
    Patient M.S.
    t(X;Y).
    Patient is not affected with the K.S.
    KALIG-1 gene has a homolog on the Y, escapes X inactivation. The K.S. may be the first example of a human neuronal migration defect for which the gene has been identified.,KALIG-1 gene is the X-linked gene for Kallmann syndrome.
    Aberration: ST,ID
    MIM#: 308700
    Index Terms: Kallmann syndrome
    Negative band
  • Boycott K M, Parslow M I, Ross J L, Miller I P, Torben Bech-Hansen N, MacLeod P M.: A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD. AJHG DOI=10.1002/ajmg.a.20231; 122A:139-147, 2003. [PubMed: 12955766]
    Mother=46,X,del(X)(p22.3).,Her two sons=46,Y,der del(X)(p22.3)mat.
    Both sons were short in stature and showed mild to moderate skeletal abnormalities. The younger son had severe learning disabilties and both had ADHD. The older son tested in the mild mental retardation range. The mother''s stature was greater than one standard deviation below her target height and she had only subtle radiographic evidence of Madelung deformity.
    The breakpoint was localized to a region between DXS6837 and sAJ243947 in Xp22.33. The two boys showed deletion for SHOX and ARSE genes. The VCX-A gene was present in both boys.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
  • Calabrese G, Fischetto R, Stuppia L, Capodiferro F, Mingarelli R, Causio F, Rocchi M, Rappold G A, Palka G.: X/Y translocation in a family with Leri-Weill dyschondrosteosis. Hum. Genet. 105:367-368, 1999. [PubMed: 10543407]
    Patient C.A. was 7 years old.
    46,Y,-X,+der(X),t(X;Y)(p22.3;q11)mat.
    Both the mother and the proband were disgnosed as having LWD.
    Aberration: Simple translocation
    MIM#: 127300
    Chromosomal Aneuploidy: Xp-
    Index Terms: Leri-Weill dyschondrosteosis
  • Cheng S D, Gasparini R, Muller U: Molecular analysis of aberrations of Xp and Yq. Hum. Genet. 88:379-382, 1992. [PubMed: 1740314]
    Case 3 (DI).
    46,X,t(X;Y)(p22.3;q11.2)de novo.
    Pregnancy was continued and the child was a normal female.
    Aberration: Simple translocation
    Negative band
  • Fitzgerald P H, Donald R A, McCormick P: Reduced fertility in women with X chromosome abnormality. Clin. Genet. 25:301-309, 1984. [PubMed: 6713704]
    Patient 2 (AD).
    46,X,r(X)(p22.3q28).
    Aberration: Ring chromosome
    Negative band
  • Frints S G M, Fryns J-P, Lagae L, Syrrou M, Marynen P, Devriendt K.: Xp22.3;Yq11.2 chromosome translocation and its clinical manifestations. Ann. Genet. 44:71-76, 2001. [PubMed: 11522244]
    Mother=46,X,der(X)t(X;Y)(Xqter->Xp22.3;Yq11.21->Yqter).,Boy=46,Y,der(X)t(X;Y)(Xqter->Xp22.3::Yq11.21->Yqter)mat.
    Mother had a normal phenotype with normal stature and gonadal function but borderline intelligence. The boy had postnatal growth retardation, developmental delay, partial icthyosis and facial dysmorphism.
    The breakpoints were between DXS278 and the KAL gene, and the DYS391 and DYS390.
    Aberration: Simple translocation
  • Gabriel-Robez O, Rumpler Y, Ratomponirina C, Petit C, Levilliers J, Croquette M F, Couturier J: "Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation." Cytogenet. Cell Genet. 54:38-42, 1990. [PubMed: 2249473]
    46,Y,der(X),t(X;Y)(p22.3;q11).,"46,X,der(X),t(X;Y)(p22.3;q11)."
    Aberration: Simple translocation
    Negative band
  • Gohlke B C, haug K, Fukami M, Friedl W, Noeker M, Rappold G A, Haverkamp F.: Interstitial deletion in Xp22.3 is associated with X linked ichthyiosis, mental retardation, and epilepsy. J. Med. Genet.37:600-602 2000, [PMC free article: PMC1734650] [PubMed: 10922387]
    Patients 1 and 2 were homozygous twins.
    Aberration: Interstitial deletion
    MIM#: 308100
    Chromosomal Aneuploidy: Xp-
    No band
  • Goodfellow P N, Pym B, Mohandas T K, Shapiro L J: The cell surface antigen locus, MIC2X, escapes X-inactivation. Nature 302:346-349, 1984,1983. [PMC free article: PMC1684497] [PubMed: 6540985]
    It is shown that MIC2X is located in the region Xp22.3->Xpter.,"t(X;Y)(Xqter->Xp223::Yq11->Yqter)"
    Aberration: Simple translocation
    Negative band
  • Goodman B K, Shaffer L G, Rutberg J, Leppert M, Harum K, Gagos S, Ray J H, Bialer M G, Zhou X, Pletcher B A, Shapira S K, Geraghty M T.: Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. AJMG 80:377-384, 1998. [PubMed: 9856567]
    Cases 1(M.C.), 2 (G.T.), 3 and 4 (twins=S.B. and R.B.):
    Case 1:46,Y,dup(X)(qter->q27.2::p22.33->qter).,Cases 2-4:46,Y,dup(X)(qter->q27::p22.3->qter).
    The phenotypic manifestations include severe growth retardation and developmental delay, and severe axial hypotonia.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+;Xp-
  • Hardelin J P, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, Chaussain J L, Weissenbach J, Petit C: X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. PNAS 89:8190-8194, 1992. [PMC free article: PMC49883] [PubMed: 1518845]
    MIM#: 308700
    Index Terms: Kallmann syndrome
    Negative band
  • Henke A, Wapenaar M, van Ommen G J, Maraschio P, Camerino G, Rappold G: Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. AJHG 49:811-819, 1991. [PMC free article: PMC1683157] [PubMed: 1897527]
    Patient CC.
    mos45,X(Blood-29%;Skin-3%)/46,X,psudic(X),(IXqter->IXp22.3::IIXp22.3->IIXqter).
    She was short or in the less than 50th%ile.
    It is suggested that a locus affecting height maps in a region of about 1.5 Mbp, distal to the DXS406 and proximal to the DXS415 locus.
    Aberration: Dicentric chromosome
    Negative band
  • Jalal S M, Law M E, Christensen E R, Spurbeck J L, Dewald G W: Method for sequential staining of GTL-banded metaphases with fluorescent-labeled chromosome specific paint probes. AJMG 46:98-103, 1993. [PubMed: 8494038]
    Case 2:
    46,X,-X,+der(X)t(X;4)(p22.3;q27).,46,X,-X,+der(X)t(X;4)(Xqter->Xp22.3::4q27->4qter).
    The 7 year-old patient had multiple minor anomalies.
    Chromosome specific paint for 4 was used to show the two normal 4s and the translocated segment.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4q+,Xp-
    Index Terms: Chromosome specific paints CSP
    Negative band
  • Jalal S M, Law M E.: Utility of multicolor fluorescent in situ hybridization in clinical cytogenetics. Genet. in Med. 1:181-186, 1999. [PubMed: 11256670]
    Also see the editorial by Dr. Stuart Scwartz entitled ''Molecular cytogenetics: show me the colors'' pages 178-180 in the same issue.
    Case 2:
    46,X,add(X)(p22.3).ish t(X;Y)(SRY+)
    The 27 year old male was referred to rule out Klinefelter syndrome.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-
    Index Terms: Multicolor FISH (M-FISH)
  • Joseph M, Cantu E S, Pai G S, Willi S M, Papenhausen P R, Weiss L.: Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation. J. Med. Genet. 33:906-911, 1996. [PMC free article: PMC1050783] [PubMed: 8950669]
    Cases 1, 2, and 3.
    46,X,der(X)t(X;Y)(p22.3;q11.21)de novo.
    Colony stimulating factor-2 receptor alpha (CSF2RA) and interluken-3 receptor alpha (IL3RA) genes related to short stature are discussed.
    Aberration: Simple translocation
    Negative band
  • Joyce C A, Ross F M, Dennis N R, Wyre N D, Barber J C K.: Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities. Clin. Genet. 56:192-199, 1999. [PubMed: 10563478]
    Case 1:
    46,Y,der(X)t(X;12)(p22.3;q24.22 or q24.31)de novo.ish der(X)t(X;12)(wcpX+,wcp12+).
    The patient was 3 years old with several several dysmorphic features.
    Aberration: Simple translocation
  • Kalz-Fuller B, Sleegers E, Schwanitz G, Schubert R.: Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin. Genet. 55:362-366, 1999. [PubMed: 10422808]
    Patient 5:
    46,X,t(X;10)(p22.3;q25.2)de novo
    A female patient, about 8 years old, had facial dysmorphisms. The der(X) was 50% early replicating.
    Aberration: Simple translocation
    Index Terms: X-inactivation pattern in X-autosome translocations
  • Karaman B, Wollnik B, Ermis H, Yuksel-Apak M, Basaran S.: A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family. Prenat. Diag. 23:336-339, 2003. [PubMed: 12673642]
    46,X,Xp+.ish del(X)(SHOX-)
    The breakpoint was between SHOX and the KAL region.
    Aberration: Interstitial deletion
    MIM#: 312865
    Chromosomal Aneuploidy: Xp-
    Index Terms: Turk(ish)
  • Kayserili H, Cox T C, Cox L L, Basaran S, Kilic G, Ballabio A, Yuksel-Apak M.: Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J. Med. Genet. 38:411-417, 2001. [PMC free article: PMC1734893] [PubMed: 11424926]
    46,X,del(X)(p22.3->pter)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: Microphthalmia with linear skin defects (MLS)
    No band
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case No. 14=46,X,add(Xp).rev ish der(X)t(X;Y)(p22.3;q11)enh(Yq11->qter).
    The patient had Turner syndrome.
    Case No. 16=46,X,add(X)(p).rev ish der(X)t(X;Y)(p22.3;p10)enh(Yp10->pter).
    The patient was a mentally retarded male.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-;Yq+
  • Kotzot D, Hoffmann K, Kujat A, Holland H, Froster U G, Mucke J.: Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype. AJMG DOI=10.1002/ajmg.10718; 113:108-110, 2002. [PubMed: 12400076]
    46,X,der(X)t(X;Y)(p22.3;p11.2)mat.
    These two cases, patient and her mother, were reported earlier by Mucke.
    Aberration: Simple translocation
    MIM#: 309801
    Index Terms: MIDAS syndrome
  • Kulharya A S, Roop H, Kukolich M K, Nachtman R G, Belmont J W, Garcia-Heras J.: Mild phenotypic effects of a de novo deletion Xpter->Xp22.3 and duplication 3pter->3p23. AJMG 56:16-21, 1995. [PubMed: 7747779]
    46,X,t(X;3)(Xqter->Xp22.3::3p23->3pter)de novo.
    The 3.5 year old girl was evaluated for minor anomalies and speech delay.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-
    Negative band
  • Kuznetzova T, Baranov A, Ivaschenko T, Savitsky G A, Lanceva O E, Wang M R, Giollant M, Malet P, Kascheeva T, Vakharlovsky V, Baranov V S: "X;Y translocation in a girl with short stature and some features of Turner''s syndrome: cytogenetic and molecular studies." J. Med. Genet. 31:649-651, 1994. [PMC free article: PMC1050031] [PubMed: 7815426]
    46,X,t(X;Y)(p22.3q11).
    Aberration: Simple translocation
    Negative band
  • Lau L-C, Lim P, Lui W-O, Chong Y-Y.: Myelodysplastic syndrome with transformation to AML-M7 in a 46,XX male patient. Cancer Genet. Cytogenet. 136:153-154, 2002. [PubMed: 12237243]
    Patient was a 31 year old male who presented with right iliac fossa pain to the ER.
    Bone marrow=45,XX,-7.,Blood with PHA=46,XX.,Two years later, BM, after diagnosis of AML=,46,XX.ish der(X)t(X;Y)(wcpY+)
    The patient died two weeks after induction therapy.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Yp+
    Index Terms: AML-M7 in a 46,XX male
  • Levy B, Dunn T M, Kaffe S, Kardon N, Hirschhorn K.: Clinical applications of comparative genomic hybridization. Genet. in Med. 1:4-12, 1998. [PubMed: 11261428]
    Case 8 (referred by L. R. Shapiro and Monica Zak):
    46,XX,add(X)(p22.3).rev ish der(X)t(X;10)(p22.3;p12.33),enh(10)(pterp12.33)
    The female patient was 8 years old with developmental delay, short stature, myopia and sacral dimple.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-;10p+
  • Lonardo F, Parenti G, Luquetti D V, Annunziata I, Monica M D, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G.: Continguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with icthyosis, chondrodysplasia punctata, mental retardation and ADHD. Europ. J. Med. Genet. 50: 301-308, 2007. [PubMed: 17591464]
    46,Y,del(X)(p22.31p22.33).
    The patient was 13 years old.
    The deletion is about 5.5 Mb.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: ADHD, ichthyyosis, Chondrodysplasia punctata
  • Maraschio P, Simoni G, Terzoli G L, d''Alberton A, Crosignani P G: X chromosomes attached by their short arm: presence of an inactive centromere influences the replication patterns. Ann. Genet. 23:208-212, 1980. [PubMed: 6971597]
    46,X,i dic(X)(p223::p223).
    Aberration: Dicentric chromosome
    Negative band
  • Matsuo M, Muroya K, Adachi M, Tachibana K, Asakura Y, Nakagomi Y, Hanaki K, Yokoya S, Yoshizawa A, Igarashi Y, Hanew K, Matsuo N, Ogata T.: Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development. Hum. Genet. 107:433-439, 2000. [PubMed: 11140940]
    Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T.: Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns. AJMG 91:267-272, 2000. [PubMed: 10766981]
    Uehara S, Nata M, Obara Y, Niinuma T, Funato T, Yajima A.: A Turner syndrome woman with a ring X chromsome [45,X/46,r(X)(p22.3q27] whose child also had a ring X chromsome. Fert. Ster. 67:576-579, 1997. [PubMed: 9091352]
    The ring X chromosome was missing a roughly 12-Mb region and breakpoint was found to be between DXS85 and DXS9972.
    mos45,X/46,X,der(X)(Xp22.3q27)mat
    The mother was 32 years old and was evaluated for IUGR.
    DNA analyses showed that the mother had transmitted the ring X chromosome.
    Aberration: Ring chromosome
  • May C A, Shone A C, Kalaydjieva L, Sajantila A, Jeffreys A J.: Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nature Genet. 31:272-275, 2002. [PubMed: 12089524]
    PAR1 crossover activity may be influenced by male-specific hot spots.
    Index Terms: SHOX, PAR1
  • Meindl A, Hosenfeld D, Bruckl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann H C, Swensson O, Bouloux P, Meitinger T: Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X-linked ocular albinism. J. Med. Genet. 30:838-842, 1993. [PMC free article: PMC1016566] [PubMed: 8230160]
    46,X,del(X)(p22.3).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
  • Mohamed F M, Tolmie J, Connor J M, Bastaki L, Krishna Murthy D S. : Delineation of trisomy 16q resulting from de novo X;16 translocation by cytogenetic, FISH and late replication studies in a child with mild dysmorphic features. AJHG 67 (Suppl. 2):147, 2000.
    46,X,-X,+der(X),t(X;16)(p22.3;q24)de novo.
    The patient was 16 months old with heart defect and developmental delay.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-;16q+
    No band
  • Morel F, Fellmann F, Roux C, Bresson J L.: Meiotic segregation analysis by FISH investigation of spermatozoa of a 46,Y,der(X),t(X;Y)(qter->p22::q11->qter) carrier. Cytogenet. Cell Genet. 92:63-68, 2001. [PubMed: 11306798]
    46,Y,der(X),t(X;Y)(p22.3;q11)(wcpX+, DXS28-, DXS28-, DYZ3-, DYZ1+, DXS7059+).
    The 30 year old man had short stature and azoospermia and later on severe oligozoospermia.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-
    No band
  • Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y.: Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implications for the MRX locus. AJMG 64:583-587, 1996. [PubMed: 8870926]
    46,Y,der del(X)(p22.3)mat.
    The deletion included 11 loci from DXS996 to DXS410 comprising STS, KAL1, and OA1.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: MRX locus
    Negative band
  • Nagata K, Yamamoto T, Chikumi H, Ikeda T, Yamamoto H, Hashimoto K, Yoneda K, Nanba E, Ninomiya H, Ishitobi K.: A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome. J. Hum. Genet. 45:237-240, 2000. [PubMed: 10944855]
    The deletion spanned from exons 5 to 10 of KAL1. Both brothers had hypogonadism, unilateral renal agenesis, and disturbance of the sense of smell, but they had no other neurological manifestations, including mental disturbance. Mother was found to be a carrier.
    Aberration: Interstitial deletion
    MIM#: 308700
    Chromosomal Aneuploidy: Xp-
    Index Terms: Kallmann syndrome,KAL1
    No band
  • Nakagome Y, Nakahori Y, Mitani K, Matsumoto M: The loss of centromeric heterochromatin from an inactivated centromere of a dicentric chromosome. Jpn. J. Hum. Genet. 31:21-26, 1986. [PubMed: 3735755]
    Case 2422.
    46,X,psu dic(X)(p22.3).
    Aberration: Dicentric chromosome
    Negative band
  • Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K: Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? AJMG 43:839-843, 1992. [PubMed: 1642272]
    Patient 2.
    46,X,del(X)(qter -> p22.3:).
    Both patients had microphtgalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: Goltz syndrome,Aicardi syndrome,Corneae ... cloudy,Agenesis of corpus callosum
    Negative band
  • Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P: Chromosomal localisation of a pseudoautosomal growth gene(s). J. Med. Genet. 29:624-628, 1992. [PMC free article: PMC1016092] [PubMed: 1404292]
    46,Y,der del(X)(p22.3)mat.
    A single copy for DXYS17 and MIC2 was present. PABX to STS loci absent in the patient (ie boy) and present in single copy in the mother.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xp-
    Negative band
  • Ohdo S, Yamada K, Madokoro H, Sonoda T, Kawaguchi K, Ohba K I: "Familial X;Y translocation in a malformed male infant and his mother." Jpn. J. Hum. Genet. 33:377-384, 1988. [PubMed: 3204691]
    Case 1, 260886.
    46,X,der(X),t(X;Y)(p22.3;q11.1).,46,Y,der(X),t(X;Y)(p22.3;q11.1)mat.
    Patient had a peculiar face, CHD, dry and scaly skin, and growth and psychomotor retardation.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-
    Negative band
  • Pereira E T, de Almeida J C C, Patton M, Jeffrey S.: Clinical and molecular studies in a mother and son with Xp22.3 deletion. Braz. J. Genet. 19:359-364, 1996.
    Patient MHBS:
    46,Y,der(X),t(X:Y)(p22.3;q11)mat.,Mother:46,X,t(X;Y)(p22.3;q11)de novo.
    The 14 year old presented with short stature, moderate MR, seizures, ichthysiosis, anosmia, and hypogonadotropic hypogondism (Kallmann syndrome).
    Mother MHB was first seen at 39 years of age.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: Kallmann syndrome
    Negative band
  • Peretti D, Maraschio P, Lambiase S, Curto F L, Zuffardi O: Indirect immunofluorescence of inactive centromeres as indicator of centromeric function. Hum. Genet. 73:12-16, 1986. [PubMed: 3519430]
    Zuffardi O, Maraschio P, Curto F L, Muller U, Giarola A, Perotti L: The role of Yp in sex determination: new evidence from X/Y translocations. AJMG 12:175-184, 1982. [PubMed: 6954848]
    Patient was 33 years old, with azoospermia, short stature, and H(Y) antigen positive. Factors controlling height are located on the distal portion of Xp and Yp.
    46,X,t(X;Y)(Xqter->Xp223::Yp11->Yqter).
    Aberration: Simple translocation
    Index Terms: Azoospermia,Stature ... short (low)
    Negative band
  • Plessis G, Couturier J, Turleau C, Despoisses S, Delavenne J: "''Pure'' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1)." J. Med. Genet. 22:70-73, 1985. [PMC free article: PMC1049383] [PubMed: 3981584]
    46,X,t(X;2)(p22.3;q32.1).,46,Y,der(X),t(X;2)(Xqter->Xp22.3::2q32.1->2qter)mat.
    Aberration: Simple translocation
    Negative band
  • Quaderi N A, Schwiger S, Gaudenz K, Franco B, Rugarli E I, Berger W, Feldman G J, Volta M, Andolfi G, Gilgenkrantz S, Marion R W, Hennekam R C M, Opitz J M, Muenke M, Ropers H H, Ballabio A.: Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genet. 17:285-291, 1997. [PubMed: 9354791]
    Verloes A, David A, Odent S, Toutain A, Andre M J, Lucas J, Le Marec B.: Opitz GBBB syndrome: chromosomal evidence of an X-linked form. AJMG 59: 123-128, 1995. [PubMed: 8849003]
    A three generation family is presented.
    46,X or Y, der inv(X)(p22.3q26.3)mat.
    This disorder is characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus.
    Aberration: Inversion pericentric
    Index Terms: Opitz G/BBB syndrome,Midline1(MID1)
    Negative band
  • Rao P N, Klinepeter K, Stewart W, Hayworth R, Grubs R, Pettenati M J.: Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome. Hum. Genet. 94:149-153, 1994. [PubMed: 8045561]
    Patient Z.H.
    46,Y,dir dup(X)(pter->p22.3::p22.3->p22.2::p22.3->qter)mat.
    The patient had severe mental retardation and autism.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: Xp+
    Index Terms: Autis(m)(tic)
    Negative band
  • Reddy K S, Yang X.: Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids. AJMG 117A:261-267, 2003. [PubMed: 12599190]
    Case 2=mos46,X,der(X)t(X;22)(p22.3;q11.2),inv dup(22)(q11.2).ish der(X)(wcpX+,wcp22+,KAL+,STS-,Xptel-,BCR+),inv dup(22)(wcp22+,TUPLE++,BCR-)[85]/45,X,der(X)t(X;22)(p22.3;q11.2),-22[15].ish der(X)(wcpX+,wcp22+,KAL+,STS-,Xptel-,BCR+).
    The 1 year-old had several dysmorphic features and had significant developmental delay.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: Xp-
  • Rivera H, Moller M, Arreola R, Cantu J M: "Mild expression of 3qter trisomy due to a de novo (X;3)(p22.3;q25.3) translocation." Ann. Genet. 27:112-114, 1984. [PubMed: 6331787]
    46,X,t(X;3)der(X)t(X;3)(p22.3;q25.3).
    Aberration: Simple translocation
    Negative band
  • Rivera H, Sole M T, Garcia-Cruz D, Martinez-Wilson M, Cantu J M: "On telomere replication and fusion in eukaryotes: apropos of a case of 45,X/46,X,ter rea(X;X)(p22.3;p22.3)." Cytogenet. Cell Genet. 38:23-28, 1984. [PubMed: 6705562]
    The 18 year old patient was referred because of short stature and amenorrhea.
    Aberration: Terminal rearrangements
    Index Terms: Stature ... short (low)
    Negative band
  • Sachs E S, Van Hemel J O, Los F J: Prenatal cytogenetic and postnatal molecular studies on 46,XX male. Lancet 339:180-181, 1992. [PubMed: 1346031]
    46,X,t(X;Y)(Xqter->Xp22.3::Yp11.2->Ypter).
    First pregnancy of the mother resulted in termination because a 45,X fetus was detected when hygroma was found. Third pregnancy resulted in this rare condition. Parental karyotyping was not done.
    Aberration: Simple translocation
    Index Terms: XX male,Prenatal ... studies
    Negative band
  • Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, Vogt S, Claussen U, Zintl F, Rappold G A.: Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. Clin. Genet. 59:115-121, 2001. [PubMed: 11260213]
    46,Y,der(X),t(X;Y)(Xqter->Xp22.3::Yq11.2->Yqter)mat.
    The male patient was 8 years old, who had mesomelic shortening of forearms and legs, brachytelephalangia and ichthyotic skin lesions. The mother had dwarfism and Madelung deformity with Leri- Weill syndrome.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-
    Index Terms: Brachytelephalangic dwarfism, SHOX, ARSE,Leri-Weill syndrome
    No band
  • Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras-Czapnik M, Wolski J, Jacobs P.: Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects. J. Med. Genet. 42: 420-427, 2008. [PMC free article: PMC1736057] [PubMed: 15863672]
    15 cases of t(Xp;Yp) were studied including Yp inversion polymorphism.
    It is suggested that incomplete masculisation in cases of X/Y translocation is a result of disruption of normal SRY expression by position effect rather tha X inactivation.
    Aberration: Simple translocation
    Index Terms: SRY+
  • Speevak M, Clifford B, Cox D M, Hunter A G W: "Detection at amniocentesis of a maternally inherited X;Y translocation." Clin. Genet. 27:595-599, 1985. [PubMed: 3860319]
    46,X,t(X;Y)(p22.3;q11.2).
    Aberration: Simple translocation
    Negative band
  • Speevak M, Farrell S A, Chadwick D.: Molecular and cytogenetic characterization of a prenatally ascertained de novo (X;Y) translocation. AJMG 98:107-108, 2001. [PubMed: 11426448]
    46,X,t(X;Y)(p22.3;q11.2)de novo
    Mother was 37 years old and continued the pregnancy.,At age 3 3/4 years, the development is within normal limits.
    Aberration: Simple translocation
    No band
  • Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold G A.: Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height. Clin. Genet. 51:346-350, 1997. [PubMed: 9212185]
    Spranger S, Schiller S, Jauch A, Wolff K, Rauterberg-Ruland I, hager D, Tariverdian G, Troger J, Rappold G.: Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. AJMG 83:367-371, 1999. [PubMed: 10232745]
    46,X,der(X)t(X;Y)(p22.3;q11.2)
    Patient was 20 years old.
    Mother=46,X,del(X)(p22.3).,Son=46,Y,del(X)(p22.3).
    Aberration: Simple translocation
    MIM#: 127300
    Index Terms: Leri-Weill syndrome
    No band
  • Thomas N S, Sharp A J, Browne C E, Skuse D, Hardie C, Dennis N R.: Xp deletions associated with autism in three females. Hum. Genet. 104:43-48, 1999. [PubMed: 10071191]
    Case no. 6, patient ID 96-01693:
    46,X,del(X)(p22.31 or p22.32)de novo.
    Developmental delay was present.
    Origin of the deleted X was paternal.
    Case no. 8, patient ID 86-01593:
    46,X,der(X)t(X;Y)(p22.3;q11.2)de novo.
    The patient had micropthalmia with linear skin defects syndrome (MLS).
    Deleted X was paternal in origin.
    Aberration: ST,TD
    Chromosomal Aneuploidy: Xp-
    Index Terms: Micropthalmia with linear skin defects syndrome (MLS)
  • Tuck-Muller C M, Martinez J E, Batista D A S, Kearns W G, Wertelecki W: Duplication of the short arm of the X chromosome in mother and daughter. Hum. Genet. 91:395-400, 1993. [PubMed: 8500796]
    46,X,dic inv dup(X)(qter->p22.3::p22.3->cen:).
    The 11 year old was evaluated because of motor and speech delay, seizures and short stature. Her mother was short, mentally retarded and reported to have seizures.
    Aberration: DI,DU
    Chromosomal Aneuploidy: Xp+
    Index Terms: Inverted duplication
    Negative band
  • Turleau C, Chavin-Colin F, de Grouchy J, Repesse G, Bauvais P: "Familial t(X;2)(p223;q323) with partial trisomy 2q and male and female balanced carriers." Hum. Genet. 37:97-104, 1977. [PubMed: 881200]
    46,X,t(X;2)(p223;q323).,46,Y,t(X;2)(p223;q323).,46,X,der(X)t(X;2)(Xqter->Xp223::2q323->2qter)mat.
    Aberration: Simple translocation
    Negative band
  • Uehara S, Hanew K, Harada N, Yamamori S, Nata M, Niikawa N, Okamura K.: Isochromosome consisting of terminal short arm and proximal long arm in a girl with short stature. AJMG 99:196-199, 2001. [PubMed: 11241489]
    46,X,der(X)(Xpter->Xp22.3::Xq22.3->cen->Xq22.3::Xp22.3->Xpter).ishder(X)(wcpX+,TelXp/Yp++,SHOX++,STS++,KAL,37A12-,DXZ1+,XIST++,97L7++,300O13-,404F18-,417G15-,399M14-,140A-,TelXq/Yq-).
    The girl was 7 11/12 years old.
    Aberration: Isochromosome
  • Van Maldergem L, Espeel M, Roels F, Petit C, Dacremont G, Wanders R J A, Verloes A, Gillerot Y: X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus. Hum. Genet. 87:661-664, 1991. [PubMed: 1937466]
    46,Y,-X,+der(X)t(X;Y)(p22.3;q11.23)mat.,46,X,t(X;Y)(Xqter->Xp22.3::Yq11.23->Yqter).
    The fetus died in a few minutes after premature labor at 26 weeks of gestation.,Mother was 29 years old with short stature and no radiological evidence of osteochondrodysplasia although ulnar deviation of the carpal angle was present.
    Aberration: Simple translocation
    MIM#: 302950
    Index Terms: Osteochondrodysplasia,Chondrodysplasia punctata
    Negative band
  • Vassal H, Medeira A, Cordeiro I, Santos H G, Castedo S, Saraiva C, Mendes da Silva P, Monteiro C.: Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Leri-Weill dyschondtrosteosis, developmental delay, and ichthyosis. AJMG 99:331-334, 2001. [PubMed: 11252003]
    An 8 year old boy and his mother have LWD and deletion at Xp22.3.
    Aberration: Terminal deletion
    MIM#: 127300
    Chromosomal Aneuploidy: Xp-
    Index Terms: Leri-Weill syndrome
    No band
  • Viljoen D L, Speleman F, Smart R, Van Roy N, du Toit J, Leroy J: Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization. Clin. Genet. 42:105-109, 1992. [PubMed: 1395079]
    Patient 2: B.M.
    45,X,-X,-21,+der(X)t(X;21)(Xqter -> Xp22.3::21q21.1 -> 21qter).
    Patient had prominent nose, divergent squint and sparse hair.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 21q-,Xp-
    Negative band
  • Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]
    Case 4=46,X,t(X;5)(p22.3;p15.1).,Case 5=46,X,t(X;9)(p22.3;q12)de novo.
    Aberration: Simple translocation
    No band
  • Weil D, Portnoi M F, Levilliers J, Wang I, Mathieu M, Taillemite J L, Meier M, Boudailliez B, Petit C: "A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata." Hum. Mol. Genet. 2:1853-1856, 1993. [PubMed: 8281147]
    Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C: Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nature Genet. 7:414-419, 1994. [PubMed: 7920661]
    Patient PAR 475.
    45,t(X;Y)(p22.3;p11).
    Patient was 13 years old with Turner stigmata. External genitalia were male with small testes.
    Aberration: Simple translocation
    MIM#: 302960
    Index Terms: Chondrodysplasia punctata,Turner syndrome
    Negative band
  • Weissortel R, Strom T M, Dorr H G, Rauch A, Meitinger T.: Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin. Genet. 54:45-51, 1998. [PubMed: 9727739]
    Patient CB was seen at 15.4 years because of delayed puberty and obesity.
    46,Y,del(X)(p22.3)
    Aberration: Interstitial deletion
    MIM#: 308700
    Chromosomal Aneuploidy: Xp-
    Index Terms: Kallman syndrome,X-linked ichthyosis
  • Wyandt H E, Bugeau-Michaud L, Skare J C, Milunsky A: Partial duplication of Xp: a case report and review of previously reported cases. AJMG 40:280-283, 1991. [PubMed: 1951429]
    Patient 1, KP was reported initially in 1991 and karyotype was reinterpreted after FISH:
    46,X,inv dup(X)(p22.1p11.2) del(X)(p22.2p22.3).
    The 24 year-old patient had short stature, irregular menses, shield chest and other minor stigmata of Ullrich-Turner syndrome.
    The deletion is between DXS1233 and DXS7108.
    Patient 2, RI, was 14 years old with short stature, learning disabilities, and paranoid schizophrenia.
    46,X,del(X)(p22.2p22.33)
    The deletion spanned 10-12cM between AFMB290XG5 and DXS1060.
    Aberration: Duplication
    Index Terms: Schizophrenia
    Positive band
  • Yen P H, Tsai S P, Wenger S L, Steele M W, Mohandas T K, Shapiro L J: X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. PNAS 88:8944-8948, 1991. [PMC free article: PMC52627] [PubMed: 1924355]
    Patient RP.
    46,Y,dert(X;Y)(p22.3;q11.2)mat.
    Aberration: Simple translocation
    Index Terms: Homologous recombination
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
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