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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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0Xp2232

0Xp22.32
  • Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli C F, Viggiano D, Strisciuglio P: Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. AJMG 41:184-187, 1991. [PubMed: 1785631]
    46,Y,del(X)(p22.32 -> pter),9p+.,46,X,del(X)(p22.32 -> pter),9p+.
    The infant had short stature, chondrodysplasia punctata, ichthyosis, and steroid sulfatase deficiency.
    Aberration: TD,MA
    Chromosomal Aneuploidy: Xp-
    Index Terms: Short stature
    Positive band
  • Curry C J R, Magenis R E, Brown M, Lanman J T, Tsai J, O''Lague P, Goodfellow P N, Mohandas T K, Bergner E A, Shapiro L J: Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. NEJM 311:1010-1015, 1984. [PubMed: 6482910]
    Mohandas T K, Speed R M, Passage M B, Yen P H, Chandley A C, Shapiro L J: Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. AJHG 51:526-533, 1992. [PMC free article: PMC1682713] [PubMed: 1496984]
    Patient D.R.
    46,X,del(X)(Xqter -> Xp2232:).,46,Y,del(X)(Xqter -> Xp2232:)mat.
    The 24 year old male had short stature, chondrodysplasia punctata, ichthyosis, STS deficiency, and mild MR.
    There was failure of XY pairing. Telomeric sequences on the deleted X were present. The pseudoautosomal sequences appear to play a role in XY pairing and formation of synaptonemal complex.
    Aberration: Interstitial deletion
    MIM#: 302950
    Chromosomal Aneuploidy: Xp-
    Index Terms: XY pairing
    Positive band
  • Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N: Short stature in a girl with a terminal deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. J. Med. Genet. 29:455-459, 1992. [PMC free article: PMC1016018] [PubMed: 1640423]
    46,X,inv(X)(p22.32q26).
    Parental karyotypes were normal. The inv(X) was paternal in origin.
    Aberration: PI,ID
    Chromosomal Aneuploidy: Xp-
    Index Terms: Short stature,Growth
    Positive band
  • Ogata T, Matsuo N: Sex chromosome aberrations and stature: deduction of the principle factors involved in the determination of adult height. Hum. Genet. 91:551-562, 1993. [PubMed: 8340109]
    Thirteen patients were studied.
    46,X,del(X)(p22.32).
    The adult height in patients with sex chromosome aberrations is defined by the dosage eefect of pseudo-autosomal and Y-specific growth genes, and influenced by the degree of growth disadvantage caused by alteration of the quantity of euchromatic or non-inactivated region.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: Height
    Positive band
  • Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G, Yokoya S.: Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J. Med. Genet. 32:831-834, 1995. [PMC free article: PMC1051714] [PubMed: 8558568]
    46,X,inv dup(X)(Xqter->Xp22.32::Xp22.32->Xp21.3:del 700kb of PAR:Xp22.32->Xpter.
    The region between DXYS20 and DXYS15 is the critical region for a pseudoautosomal growth gene(s).
    Part of the description of the karyotype rearrangemnt is concocted by me based on the data given and ISCN (1995) recommendations.
    Aberration: Duplication
    MIM#: 475000
    Chromosomal Aneuploidy: Xp-;Xp+
    Index Terms: Pseudoautosomal growth gene(s)
    Positive band
  • Schwinger E, Kirschstein M, Greiwe M, Konermann T, Orth U, Gal A.: Short stature in a mother and daughter with terminal deletion of Xp22.3. AJMG 63:239-242, 1996. [PubMed: 8723116]
    46,X,der del(X)(p22.32->pter)mat.
    The 10 year old proband''s height was 127.5cm, 3rd centile; her mother''s was 150cm.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: Short Stature
    Positive 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 1, patient ID 97-05436:
    46,X,del(X)(p22.32).
    Case was ascertained because of short stature.
    Origin of the deleted X was paternal.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
  • Zhang A, Weaver D D, Palmer C G.: Molecular cytogenetic identification of four X chromosome duplications. AJMG 68:29-38, 1997. [PubMed: 8986272]
    Patient 2 (family #83997):
    46,X,inv dup(X)(p22.32->p22.1)mat,Y.
    The infant boy had MCA and the family was investigated.
    Patient 3 (family #87880):
    46,X,dup(X)(qter->q21.3::p22.33->p22.32::p22.32->qter)
    The 29 month old girl was referred for developmental delay, short stature, and minor abnormalities.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xp+
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106873

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