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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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13q312

13q31.2
  • Brown S, Gersen S, Anyane-Yeboa K, Warburton D: "Preliminary definition of a ""critical region"" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature." AJMG 45:52-59, 1993. [PubMed: 8418661]
    Patient 14, B.G.V.
    46,XX,del(13)(q31.2q34).
    Aberration: Interstitial deletion
    Negative band
  • Juberg R C, Mowrey P N: Interstitial del(13q) associated with blindness and mental retardation. AJMG 17:609-613, 1984. [PubMed: 6711612]
    Patient, 240475, had blindness due to congenital falciform retinal folds and severe mental retardation. Mother''s karyotype was 46,XX,16qh+, and father''s was 46,XY,1qh+,9qh+.
    46,XY,del(13)(pter -> q31.2::q32.3 -> qter).
    Aberration: Interstitial deletion
    Negative band
  • Kennedy D, Chitayat D, Winsor E J T, Silver M, Toi A.: Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. AJMG 77:317-321, 1998. [PubMed: 9600743]
    Case 11:
    46,XY,der(13)t(13;22)(q31.2;q13.3)pat
    Anencephaly, absent thumbs, hypoplastic kidneys and adrenals.
    Aberration: Simple translocation
    Index Terms: Anencephaly,NTD
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106181

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