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Pure duplication of 19p13.3
Author(s) -
Ishikawa Aki,
Enomoto Keisuke,
Tominaga Makiko,
Saito Toshiyuki,
Nagai Junichi,
Furuya Noritaka,
Ueno Kentaro,
Ueda Hideaki,
Masuno Mitsuo,
Kurosawa Kenji
Publication year - 2013
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.36041
Subject(s) - gene duplication , hum , chromosomal translocation , phenotype , psychomotor learning , genetics , gene , biology , neuroscience , history , cognition , performance art , art history
Chromosomal abnormalities involving 19p13.3 have rarely been described in the published literature. Here, we report on a girl with a pure terminal duplication of 6.1 Mb on 19p13.3, caused by an unbalanced translocation der(19)t(10;19)(qter;p13.3)dn. Her phenotype included severe psychomotor developmental delay, skeletal malformations, and a distinctive facial appearance, similar to that of a patient previously reported by Lybaek et al. [Lybaek et al. (2009); Eur J Hum Genet 17:904–910]. These results suggest that a duplication of >3 Mb at the terminus of 19p13.3 might represent a distinct chromosomal syndrome. © 2013 Wiley Periodicals, Inc.