Williams syndrome and the elastin gene in Thai patients.
J Med Assoc Thai
; 82 Suppl 1: S174-8, 1999 Nov.
Article
em En
| MEDLINE
| ID: mdl-10730539
ABSTRACT
Williams syndrome (WS) has long been known as a complex disorder of dysmorphic facial features, described as elfin face, mental retardation or learning disability, loquacious personality, and supravalvular aortic stenosis. The etiology is now known to be due to deletion of the elastin gene (ELN) on long arm of chromosome 7. Thai patients were previously reported by clinical diagnosis. This study reports the first two cases of WS with ELN deletion diagnosed by fluorescent in situ hybridization (FISH) technique. Clinically, hyperacusis is a common finding in WS associated with otitis media. Neither of the patients had hyperacusis, but one of them had bilateral sensorineural hearing loss, which to our knowledge, has never been reported.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Elastina
/
Hibridização in Situ Fluorescente
/
Deleção de Genes
/
Síndrome de Williams
Limite:
Female
/
Humans
/
Infant
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
1999
Tipo de documento:
Article