Prevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital.
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Tailandia
/
Hospitales Urbanos
/
Femenino
/
Humanos
/
Masculino
/
Niño
/
Preescolar
/
Tamizaje Masivo
/
Prevalencia
/
Muestreo
Tipo de estudio:
Estudio de prevalencia
/
Estudio pronóstico
/
Factores de riesgo
/
Estudio de tamizaje
País/Región como asunto:
Asia
Idioma:
Inglés
Año:
2000
Tipo del documento:
Artículo
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