AI Article Synopsis
- Microdeletions on chromosome 13's long arm result in a specific facial appearance and various health issues, with symptoms depending on the deletion's location and size.
- The primary clinical features include intellectual disability, growth issues, distinct facial characteristics, and other birth defects.
- A case study is presented of a Mexican woman with microcephaly, unusual facial traits, short height, hand anomalies, and normal intelligence, linked to a new microdeletion in chromosome region 13q31.3-q32.1 affecting multiple genes.
Article 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.
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| http://dx.doi.org/10.1016/j.ejmg.2014.01.006 | DOI Listing |
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