A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12

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• 作者：Nathalie Van der Aa ; Geert V ; eweyer ; R. Frank Kooy
• 关键词：Microdeletion ; Chromosome 19p ; 19p13.12 deletion ; Mental retardation ; Hypertrichosis
• 刊名：European Journal of Medical Genetics
• 出版年：2010
• 出版时间：September-October 2010
• 年：2010
• 卷：53
• 期：5
• 页码：291-293
• 全文大小：718 K

文摘

We present a moderately mentally retarded boy with obesity, short stature, hypertrichosis and facial dysmorphism due to a deletion of 1.2 Mb on chromosome 19p13.2. The deletion was de novo and familial history was negative for the disorder. Genes in the deleted region possibly related to the clinical symptoms of our patient include NOTCH3 (MIM600276), causative of the vascular neurodegenerative disorder CADASIL and CASP14 (MIM605848), playing a central role in apoptosis in the inner root sheeth of the hair follicle.