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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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02q312

2q31.2
  • Mencarelli M A, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F.: Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH. AJMG (Part A): 143A: 858-865, 2007. [PubMed: 17352388]
    46,XY,del(2)(q31.2q32.3)dn
    The 13 year old patient shows sever MR, absence of speech, sleep disturbance, behavioral problems, and some dysmorphic features.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Array-CGH
  • Nielsen K B, Dyggve H V, Knudsen H, Olsen J: A chromosomal survey of an institution for the mentally retarded. Danish Med. Bull. 30:5-13, 1983. [PubMed: 6831943]
    Case No. 93-78.
    46,XY,t(2;3)(q312;q111).
    Aberration: Simple translocation
    Positive band
  • Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E.: 2q31.2q32.3 deletion syndrome: report of an adult patient. AJMG Part A: DOI=10.1002/ajmg.a.32688, 2009. [PubMed: 19248183]
    46,XY,inv(8)(p11.2q21.2)dn,46,XY,del(2)(q31.2q32.3)dn
    Patient was 36 years old with severe MR, behavioral problems, and hand/foot anomalies..
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
  • Walpole I R, Mulcahy M T: "Tyrosinase positive albinism with familial 46,XY,t(2;4)(q31.2;q31.22)." J. Med. Genet. 28:482-484, 1991. [PMC free article: PMC1016961] [PubMed: 1910093]
    46,XY,t(2;4)(q31.2;q31.22).
    Patient was 3 years old with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA).
    Aberration: Reciprocal translocation
    MIM#: 203200
    Index Terms: Tyrosinase,Albinism
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107124
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