Prevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital.
Artigo
em Inglês
| IMSEAR
| ID: sea-42189
ABSTRACT
Fragile X syndrome, the most common cause of inherited mental retardation, is an X-linked genetic disorder caused by an expanded CGG repeat in the fragile X mental retardation 1 gene. It is characterized by mental retardation, behavioral features, and physical features, such as a long face with large protruding ears and macro-orchidism. A screening for the syndrome was conducted in a representative sample of pediatric patients, who had developmental delay or mental retardation with unknown cause, at the Child Development Clinic, Ramathibodi Hospital. The DNA test was performed on all patients using PCR and southern blot techniques. Five positive cases were detected from 114 screened subjects, and more four cases confirmed among other family members. Two of five positive families initially denied a family history of mental retardation. Among 9 cases of fragile X syndrome, four had hyperactivity and two had autistic like behavior. More than half had rather a long face or prominent ears. Three boys had macro-orchidism.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Tailândia
/
Hospitais Urbanos
/
Feminino
/
Humanos
/
Masculino
/
Criança
/
Pré-Escolar
/
Programas de Rastreamento
/
Prevalência
/
Estudos de Amostragem
Tipo de estudo:
Estudo de prevalência
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
2000
Tipo de documento:
Artigo
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