Prevalence and Clinical Characteristics of Fragile X
Syndrome at Child Development Clinic, Ramathibodi
Hospital
NICHARA RUANGDARAGANON, M.D.*,
THANYACHAI SURA, M.D.***,
NOPPA WAN SRIWONGPANICH, M.D.****,
PORNPROT LIMPRASERT, M.D., Ph.D.**,
TASANA WAT SOMBUNTHAM, M.D.*,
NITTAYA KOTCHABHAKDI, M.D.*
Affiliation : *Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400,
**Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla 90110,
***Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400,
****Rachanukul Hospital, Bangkok 10400, Thailand.
AbstractFragile 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.
Keywords : Fragile X Syndrome, Mental Retardation
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