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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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20q1313

20q13.13
  • Aldred M A, Aftimos S, Hall C, Waters K S, Thakker R V, Trembath R C, Brueton L.: Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osetodystrophy. AJMG 113:167-172, 2002. [PubMed: 12407707]
    Patient 1 was referred because of obesity, devlopmental delay, and dysmorphism.
    Patient 1=46,XY,del(20)(q13.13q13.32).,Patient 2=46,XX,del(20)(q13.31q13.33)de novo
    Patient 1 was referred because of obesity, dysmorphism and developmental delay. At age of 9 years, he has poor attention span but attends a mainstream class.,Patient 2, of Turkish origin, was referred at 18 years of age, beacuse of short stature and learning difficulties.
    Aberration: Interstitial deletion
    MIM#: 103580
    Chromosomal Aneuploidy: 20q-
    Index Terms: Albright Hereditary osteodystrophy (AHO)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105876

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