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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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05q141

5q14.1
  • Same entry as in 02q141 (Eisenhut et al, 2002).

  • Sirko-Osadsa D A, Cassidy S B, Depinet T W, Robin N H, Limwongse C, Schwartz S.: Molecular refinement of karyotype: beyond the cytogenetic band. Genet. in Med. 1:254-261, 1999. [PubMed: 11258626]
    Patient 2:
    46,XY,del(5)(q14.1q21.1)de novo. The deletion extends from a region between markers D5S433 and D5S495 to an area between markers D5S652 and D5S618 suggesting the loss of approximately 7 Mb.
    The 17mo patient was referred because of speech delay. He also had a mildly high arched palate and a superiorly overfolded left auricle helix.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106666
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