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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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  • Brown S, Russo J, Chitayat D, Warburton D.: The 13q- syndrome: The molecular definition of a critical deletion region in band 13q32. AJHG 57:859-866, 1995. [PMC free article: PMC1801482] [PubMed: 7573047]
    The region is between D13S136 and D13S147 and is on the order of 1 Mb in size.

    Tranebjaerg L, Nielsen K B, Tommerup N, Warburg M, Mikkelsen M: Interstitial deletion 13q: Further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. AJMG 29:739-753, 1988. [PubMed: 3400720]
    Patient 4
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 13q-
    Positive band
  • Levy B, Dunn T M, Kaffe S, Kardon N, Hirschhorn K.: Clinical applications of comparative genomic hybridization. Genet. in Med. 1:4-12, 1998. [PubMed: 11261428]
    Case 12 (referred by E H Zackai, CHOP, PA):
    46,XX,add(13q).ish dup inv ins(q31.3q33.1q31.3),(BAC13C5+,BAC13C7++,BAC13C11++),.rev ish enh(13)(q31.3q33.1)
    The 4 year old patient had MCA, good comprehension and wide-based unsteady gait.
    Aberration: Inverted insertions within a chromosome
    Chromosomal Aneuploidy: 13q+
  • van der Zwaag P A, Dijkhuizen T, Gerssen-Schoorl K B J, Colijn A W, Broens P M A, Flapper B C T, van Ravenswaaij-Arts C M A.: An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2. Europ. J. Med. Genet. 53: 45-49, 2010. [PubMed: 19941983]
    The patient was 27 months old with macrocephaly and polydactyly in the left hand.
    Aberration: Duplication
    Chromosomal Aneuploidy: 13q+
    Index Terms: Postaxial polydactyly type A2
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106174


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