J Med Assoc Thai 2000; 83 (1):69

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Prevalence and Clinical Characteristics of Fragil X Syndrome at Child Development Clinic, Ramathibodi Hospital
Ruangdaraganon N Mail, Sura T , Sombuntham T , Sriwongpanich N , Kotchabhakdi N

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.
Key word
: Fragile X Syndrome, Mental Retardation

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