Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2813893 | European Journal of Medical Genetics | 2014 | 5 Pages |
Abstract
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.
Keywords
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Genetics
Authors
Juan Manuel Valdes-Miranda, Jose Ramon Soto-Alvarez, Jaime Toral-Lopez, Luz González-Huerta, Adrian Perez-Cabrera, Georgina Gonzalez-Monfil, Olga Messina-Bass, Sergio Cuevas-Covarrubias,