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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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  • Beverstock G C, MacFarlane J D, Veenema H, Hoekman H, Goodfellow P J: Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter to q11.1) karyotype of an infertile male. J. Med. Genet. 26:330-333, 1989. [PMC free article: PMC1015601] [PubMed: 2659792]
    Blood-45,X.&Skin-mos45,X/46,X,del(Y)(pter -> q11.1)(4/1 ratio).
    Aberration: Terminal deletion
    Variable band
  • Duell T, Mathews S, Wunderlich B, Mittermuller J, Schmetzer H.: Interstitial and terminal deletion of chromosome Y in a male individual with cryptozoospermia. Mol. Hum. Reprod. 4:325-331, 1998. [PubMed: 9620831]
    46,X,del(Y)(pter->Yq11.1::Yq11.1->Yq11.22::Yq11.22->Yq11.23:) or 46,X,del(Y)(Yq11.1->Yq11.22)del(Y)(Yq11.23->Yqter).
    The patient was 38 years old with small testes and cryptozoospermia.
    Region 6B and 6C were retained; AZFc region harbouring the DAZ locus on distal subinterval 6F was lost.
    Aberration: ID,TD
    Chromosomal Aneuploidy: Yq-
    Index Terms: Cryptozoospermia
  • Rivera H, Vasquez A I, Ayala-Madrigal M L, Ramirez-Duenas M L, Davalos I P.: Alphoidless centromere of a familial unstable inverted Y chromosome. Ann. Genet, 39:236-239, 1996. [PubMed: 9037351]
    46,X,der psedic (Y)(pter->q11.1::,q11.23->q11.1::q11.23->qter)pat.
    The 15 year old proband had short neck, low posterior hairline and height of 165cms.
    An interesting interpretation and phenotype of the three males carrying this abnormal Y chromosome.
    Aberration: Inversion paracentric
    Index Terms: Alphoidless centromere
    No band
  • Slim R, Soulie J, Hotmar J, Lecolier B, Bercau G, Bernheim A: Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analyses. Prenat. Diag. 14:23-28, 1994. [PubMed: 8183834]
    At 27 weeks of gestation short femur was seen by ultrasound. Birth length was 45.5cm. An anterior hypospadia with a curved penis was seen. Hormonal levels were within normal limits. Testis showed seminiferous tubules, neither Leydig cells nor spermatogonia were seen.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: Yp+
    Variable band
  • Wang B B T, Yu L C, Peng W, Falk R E, Willimas J III, .: Prenatal identification of i(Yp) by molecular cytogenetic analysis. Prenat. Diag. 15: 1115-1119, 1995. [PubMed: 8750290]
    Patient S.S.
    46,X,i(Yp)de novo.
    Breakpoints assigned after CGH at Yq11.1. Pregnancy terminated at 20 weeks.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: Yp+
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106167
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