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Article

Pure duplication of 19p13.3.

American journal of medical genetics. Part A - 1 Sept 2013

Ishikawa Aki, Enomoto Keisuke, Tominaga Makiko, Saito Toshiyuki, Nagai Jun-ichi, Furuya Noritaka, Ueno Kentaro, Ueda Hideaki, Masuno Mitsuo, Kurosawa Kenji

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23897601
DOI: 10.1002/ajmg.a.36041

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