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De novo interstitial tandem duplication of chromosome 20p12.1p13
Author(s) -
de Ravel T.J.L.,
Vermeesch J.R.,
Fryns J.P.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10825
Subject(s) - gene duplication , tandem exon duplication , genetics , chromosome , tandem , biology , medicine , gene , materials science , composite material
We report the first case of an individual with a de novo interstitial tandem duplication of the short arm of chromosome 20p12.1p13, discuss the clinical features, and propose the possible underlying mechanism of formation. © 2002 Wiley‐Liss, Inc.
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