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

作者：Van der Aa Nathalie^*; Vandeweyer Geert; Kooy R Frank

来源：European Journal of Medical Genetics, 2010, 53(5): 291-293.

DOI：10.1016/j.ejmg.2010.05.006

• Microdeletion
• Chromosome 19p
• 19p13.12 deletion
• Mental retardation
• Hypertrichosis

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.

• 出版日期2010-10