A diagnostic clinical genetic study of craniofacial dysmorphism
(East. Mediterr. health j).
em En
| WHOLIS
| ID: who-118730
Biblioteca responsável:
CH1.1
ABSTRACT
A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients [8 females, 17 males], age range 2 months to 47 years. Complete genetic examination, pedigree analysis, anthropometric measurements and radiological studies were carried out. Cytogenetic studies included fluorescence in situ hybridization [FISH] when indicated. In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had chromosome markers. Three patients were FISH-positive for William syndrome and one was positive for Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed as craniosynostosis syndromes. We conclude that minor features are useful for making a diagnosis of congenital anomalies
Palavras-chave
Texto completo:
1
Coleções:
04-international_org
Base de dados:
WHOLIS
Assunto principal:
Síndrome de Prader-Willi
/
Marcadores Genéticos
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Aberrações Cromossômicas
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Hibridização in Situ Fluorescente
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Síndrome de Williams
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Anormalidades Craniofaciais
Idioma:
En
Revista:
East. Mediterr. health j
Ano de publicação:
1999