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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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20q1123

20q11.23
  • Same entry as in 01q341 (Youings et al, 2003).
  • Petersen M B, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H: New assignment of the adenosine deaminase gene locus to chromosome 20q13.11 by study of a patient with interstitial deletion. J. Med. Genet. 24:93-96, 1987. [PMC free article: PMC1049896] [PubMed: 3560174]
    The patient was 3 years old with mental and growth retardation, low set ears, broad nasal bridge and macrostomia.
    46,XY,del(20)(q11.23q13.11).
    Aberration: Interstitial deletion
    MIM#: 102700
    Chromosomal Aneuploidy: 20q-
    Index Terms: Ears ... low-set
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106841

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