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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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06p241

6p24.1
  • Vermeesch J R, Thoelen R, Fryns J P.: A familial complex chromosome translocation resulting in duplication 6p25. Ann. Genet. 47:275-280, 2004. [PubMed: 15337473]
    Patient B.L. born in July, 2000.
    Mother=46,XX,del(6)(p25.2p24.1),der(12)inv(12)(p13q12)t(12;6)(p13;p25.3p24.1).,Patient=46,XX,der(12)inv(12)(p13q12),t(12;6)(p13;p25.3p24.1)mat.
    The girl had psychomotor retardation, severe speech developmental delay and mild dysmorphic features.
    There is a small terminal deletion of 6p in the mother.
    Aberration: ST,PI
    Chromosomal Aneuploidy: 6p+;6p-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106520
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