Parental Origin of the Deletion 22q11.2 and Brain Development in Velocardiofacial Syndrome
Open Access
- 1 January 2001
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of General Psychiatry
- Vol. 58 (1) , 64-68
- https://doi.org/10.1001/archpsyc.58.1.64
Abstract
VELOCARDIOFACIAL syndrome (VCFS) is a common genetic condition associated with physical features, including heart malformations, palatal abnormalities, and characteristic facial dysmorphism.1 The high frequency of VCFS (1 in 2000-4000 live births)2 ranks this condition as one of the most common genetic causes of learning disabilities and mild mental retardation. In most diagnosed cases, the syndrome is due to a 3 megabase (Mb) de novo deletion on chromosome 22q11.2,3 and can occur on either parental chromosome. At least 30 genes are encoded in the common deleted segment.4 Among these, a few are expressed in brain tissue, and some are likely to be essential for normal brain development.5-7Keywords
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