Deletion 22q11: Spectrum of Associated Disorders

Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal functi...

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Bibliographic Details
Published in:Seminars in pediatric neurology 2007-09, Vol.14 (3), p.136-139
Main Author: Hay, Beverly N., MD
Format: Article
Language:English
Subjects:
22q11 deletion
Chromosome Deletion
Chromosomes, Human, Pair 22 - genetics
DiGeorge syndrome
DiGeorge Syndrome - genetics
DiGeorge Syndrome - pathology
Humans
Neurology
Pediatrics
review
VDFS
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Summary:Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal function, facial features and congenital cardiac defects. In addition, learning disabilities and psychiatric issues are common. The aim of this article is to provide a concise review of the clinical characteristics of this complex disorder. Recognition of the features associated with velocardiofacial syndrome allows for an inclusive diagnosis and more comprehensive care.
ISSN:1071-9091
1558-0776
DOI:10.1016/j.spen.2007.07.005