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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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08q123

8q12.3
  • Astbury C, Christ L A, Aughton D J, Cassidy S B, Kumar A, Eichler E E, Schwartz S.: Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet. in Med. 6:81-89, 2004. [PubMed: 15017330]
    Patient AA:
    46,XX,t(8;10)(q12.3;p11.23p12.1),del(10)(7 Mb).
    The 4 year-old patient had developmental delay, VSD, coarctation of aorta, and minor anomalies.
    The breakpoint was in 8q12.3, between BAC RP11-16E8 and RP11-252M13.
    Aberration: ST,ID
    Chromosomal Aneuploidy: 10p-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105540
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