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A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

✍ Scribed by Chih-Ping Chen; Schu-Rern Chern; Shuan-Pei Lin; Chyi-Chyang Lin; Yueh-Chun Li; Tzu-Hao Wang; Chen-Chi Lee; Chen-Wen Pan; Lie-Jiau Hsieh; Wayseen Wang

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 145 KB
Volume: 139A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30997

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✦ Synopsis

Abstract

A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31‐qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3‐q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion. © 2005 Wiley‐Liss, Inc.

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