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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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09q2231

9q22.31
  • Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, Danesino C.: Interstitial deletion of chromosome 9, int del(9)(q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Europ. J. Pedait. DOI=10.1007/s00431-002-1116-4; 162:100-103, 2003. [PubMed: 12548386]
    Patient G.A. was 6 years old.
    46,XY,int del(9)(q22.31q31.2)
    The lost region spanned from D9S1796 to D9S938.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 9q-
    Index Terms: Robinow/brachydactyly type 1B syndrome (BDB1), Multiple basal cell nevus syndrome (NBCCS)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105767

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