Title
A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12 A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Paris ,
Subject
Biology
Human medicine
Source (journal)
European journal of medical genetics. - Paris
Volume/pages
53(2010) :5 , p. 291-293
ISSN
1769-7212
ISI
000285186100012
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
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.
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