Deletion 22q11: spectrum of associated disorders.
Semin Pediatr Neurol
; 14(3): 136-9, 2007 Sep.
Article
em En
| MEDLINE
| ID: mdl-17980310
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 22
/
Deleção Cromossômica
/
Síndrome de DiGeorge
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Semin Pediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Estados Unidos