Pure Duplication of 19p13.3

被引：11

作者：

Ishikawa, Aki ^{[1
]}

Enomoto, Keisuke ^{[1
]}

Tominaga, Makiko ^{[1
]}

Saito, Toshiyuki ^{[2
]}

Nagai, Jun-ichi ^{[2
]}

Furuya, Noritaka ^{[1
]}

Ueno, Kentaro ^{[3
]}

Ueda, Hideaki ^{[3
]}

Masuno, Mitsuo ^{[4
]}

Kurosawa, Kenji ^{[1
,5
]}

机构：

[1] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa 2328555, Japan

[2] Kanagawa Childrens Med Ctr, Dept Clin Lab, Yokohama, Kanagawa 2328555, Japan

[3] Kanagawa Childrens Med Ctr, Dept Pediat Cardiol, Yokohama, Kanagawa 2328555, Japan

[4] Kawasaki Univ Med Welf, Grad Sch Hlth & Welf, Genet Counseling Program, Kurashiki, Okayama, Japan

[5] Kanagawa Childrens Med Ctr, Inst Clin Res, Yokohama, Kanagawa 2328555, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 09期

关键词：

19p13.3; duplication; array CGH; developmental delay; subtelomere; PARTIAL TRISOMY-19P; DELETION;

D O I：

10.1002/ajmg.a.36041

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 >3Mb at the terminus of 19p13.3 might represent a distinct chromosomal syndrome. (c) 2013 Wiley Periodicals, Inc.

引用

页码：2300 / 2304

页数：5

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