A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence
A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence
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DOI：
10.1016/j.ejmg.2014.01.006
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发表时间：
2014-02-01
影响因子：
1.9
通讯作者：
Cuevas-Covarrubias, Sergio
中科院分区：
文献类型：
--
作者：
Manuel Valdes-Miranda, Juan;Ramon Soto-Alvarez, Jose;Cuevas-Covarrubias, Sergio
Microdeletions of the long arm of chromosome 13 lead to a characteristic facial appearance with systemic affection; 13q deletion shows a wide phenotypic spectrum that varies with respect to the location and size of the deletion region. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various congenital defects. In the present study we describe the case of an adult female of Mexican origin with microcephaly, facial dysmorphism, short stature, hand anomalies and normal intelligence associated with a de novo 13q31.3-q32.1 microdeletion that involved several genes including the MIR17HG and the GPC5 genes. (C) 2014 Elsevier Masson SAS. All rights reserved.
