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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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08q131

8q13.1
  • Sasaki T, Tonoki H, Soejima H, Niikawa N.: A 4Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type 1. J. Med. Genet. 34:335-339, 1997. [PMC free article: PMC1050924] [PubMed: 9138161]
    The patient is 11 years old.
    46,XX,inv(8)(q13.1q24.11)de novo
    She had signs of TRPS type 1 and postaxial polydactyly of the fingers.
    Aberration: Inversion paracentric
    MIM#: 190350
    Index Terms: Trichorhinophalangeal syndrome type 1 (TRPS1)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106356

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