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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-.

13q200

13q20
  • Jacobs P A, Matsuura J S, Mayer M, Newlands I M: A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities. Clin. Genet. 13:37-60, 1978. [PubMed: 146575]
    46,XX,t(13;18)(q21 or 22;q22 or 23).
    Patient A462 (250473) in this report.
    46,XX,-18,der(18)t(13;18)(q21 or 22;q22 or 23)mat.
    Aberration: Simple translocation
    No band
  • Kristjansson K and colleagues.: Personal communication from Children''s Hospital, Reykjavik, Iceland., February 23, 2006.
    47,XY,+der(13)(cen13-,13q14-,13q2==>qter++)[66%].
    A newborn with polycystic kidneys, bilateral syndactyly of the 2nd and 3rd toes, mild retrognathia, prominent anthelix, PDA, an ASD, a VSD.
    Chromosomal Aneuploidy: 13q+
    Index Terms: 13q tetrasomy
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105757
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