NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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-.

20p1122

20p11.22
  • Michaelis R C, Skinner S A, Deason R, Skinner C, Moore C L, Phelan M C.: Interstitial deletion of 20p: new candidate region for Hirschsprung disease and autism? AJMG 71:298-304, 1997. [PubMed: 9268100]
    Patient J.G. was 9 10/12 years old.
    46,XY,del(20)(p11.22p11.23)de novo
    The deleted region includes loci for markers D20S104, D20S118, D20S48, D20S112, D20S114, D20S83 and PCSK2. All were maternal.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 20p-
    Index Terms: Hirschsprung disease,Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106735
Contents