Pure duplication of 19p13.3 | Zendy

Ishikawa Aki | Zendy; Enomoto Keisuke | Zendy; Tominaga Makiko | Zendy; Saito Toshiyuki | Zendy; Nagai Junichi | Zendy; Furuya Noritaka | Zendy; Ueno Kentaro | Zendy; Ueda Hideaki | Zendy; Masuno Mitsuo | Zendy; Kurosawa Kenji | Zendy

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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.

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