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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-.

Cover of Chromosomal Variation in Man

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

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  • Kim H J, Perle M A, Bogosian V, Greco A: Prenatal diagnosis of a DE NOVO complex chromosomal rearrangement involving four chromosomes. Prenat. Diag. 6:211-216, 1986. [PubMed: 3725740]
    The rearrangement was found in a fetus during a routine prenatal examination and was of a de novo origin.
    46,XY,t(4;6;15;16)(q31.2;q25;q23;p13.1).&"46,XY,t(4;6;15;16)(4pter -> 4q31.2::6q25 -> 6qter;15pter -> 15q23::4q31.2 -> 4qter;15qter -> 15q23::16p13.1 -> 16qter;6pter -> 6q25::16p13. 1 -> 16pter)."
    Aberration: Complex translocation
    Positive band
  • Mewar R, Kline A D, Jackson L G, Overhauser J: Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization. AJMG 44:477-481, 1992. [PubMed: 1442891]
    Strathdee G, Harrison W, Riethman H C, Goodart S A, Overhauser J: Interstitial deletions are not the main mechanism leading to 18q deletions. AJHG 54:1085-1091, 1994. [PMC free article: PMC1918195] [PubMed: 8198131]
    Patient B.D.
    The 7 year old patient had minor anomalies, growth retardation, and developmental delay.
    Standard banding technique did not resolve the small deletion of 18q and FISH was used.,Using the YAC telomeric sequence it was demonstrated that there was a deletion of chromosome 18 material in this translocation event.
    Aberration: ST,TD
    Chromosomal Aneuploidy: 18q-
    Index Terms: Translocation ... cryptic,Telomer
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105892


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