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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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  • Same entry as in 0Xp2212, 0Xp2231 (Zinn et al, 1998).

  • Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, Warenik-Szymankiewicz A, Ruszczynska-Wolska A, Jaruzelska J.: Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. J. Med. Genet. 36:452-456, 1999. [PMC free article: PMC1734388] [PubMed: 10874632]
    Sharp A, Kusz K, Jaruzelska J, Szarras-Czapnik M, Wolski J, Jacobs P.: Familial X/Y translocations associated with variable sexual phenotype. J. Med. Genet. 41:440-444, 2004. [PMC free article: PMC1735805] [PubMed: 15173229]
    Patient AK=46,X,der t(Xp;Yp)pat.,Patient PG=46,X,der t(Xp;Yp)mat.
    Patient AK was ascertained at age 17 with ambiguous internal and external genitalia. PG was ascertained at 6 months of age with ambiguous inetrnal and external genitalia. It is possible that these two families may have a shared ancestry. Some male and female carriers of the translocated chromosomes are fertile.
    The X breakpoint is distal to DXYS228X. The Y breakpoint is localised to the interval 6-7 kb proximal to SRY.
    Aberration: Simple translocation
  • Magenis R E, Webb M J, McKean R S, Tomar D R, Allen L J, Kammer H, van Dyke D L, Lovrien E: "Translocation (X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype." Hum. Genet. 62:271-276, 1982. [PubMed: 6892019]
    46,X,-Y,+der(X)t(X;Y)(p22.32 or p22.33;p11.2).
    Aberration: Simple translocation
    Negative band
  • Nanko S: Schizophrenia-like psychosis in a 46,XX male. Folia Psychiat. Neurol. Japon. 35:461-463, 1981. [PubMed: 7200933]
    Ross N L J, Yang J, Sargent C A, Boucher C A, Nanko S, Wadekar R, Williams N A, Affara N A, Crow T J.: Triplication of several PAR1 genes and part of the Homo sapiens specific Yp11.2/Xq21.3 region of homology in a 46,X,t(X;Y)(p22.33;p11.2) male with schizophrenia. J. Med. Genet. 38:710-719, 2001. [PMC free article: PMC1734742] [PubMed: 11594342]
    Index Terms: Psychosis ... schizophrenia
  • Ogata T, Goodfellow P, Petit C, Maroteaux P, Matsuo N: Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus. AJMG 45:101-104, 1993. [PubMed: 8418639]
    Ogata T, Matsuo N, Shimizu N: A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male. AJMG 35:241-244, 1990. [PubMed: 2106786]
    Patient was 15 10/12 years old with short stature (Tanner stage 4, peak growth velocity 7 cm/year).
    The breakpoint on Xp is between DXS31 and STS.
    Aberration: Ring chromosome
    MIM#: 302950
    Chromosomal Aneuploidy: Xp-
    Negative band
  • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.: Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum. Genet. 109:286-294, 2001. [PubMed: 11702209]
    Case 8:46,X,der del(X)(p22.33)mat.
    Mother and daughter have no phenotypic effects because of this deletion.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
  • 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 3, patient ID 95-02697:
    46,X,der t(X;Y)(p22.33;q12)mat.
    Turner syndrome was diagnosed.
    Case 4, Patient ID 95-D1130 was the mother.
    Aberration: ST,TD
    Chromosomal Aneuploidy: Xp-
  • 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]
    Cases 1 & 2=46,X,t(X;5)(p22.33;p15.1)mat.
    Aberration: Simple translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105642


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