Publication: Prevalence and clinical characteristics of fragile X syndrome at Child Development Clinic, Ramathibodi Hospital
Issued Date
2000-01-01
Resource Type
ISSN
01252208
Other identifier(s)
2-s2.0-0033628137
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.83, No.1 (2000), 69-76
Suggested Citation
Nichara Ruangdaraganon, Thanyachai Sura, Noppawan Sriwongpanich, Pornprot Limprasert, Tasanawat Sombuntham, Nittaya Kotchabhakdi Prevalence and clinical characteristics of fragile X syndrome at Child Development Clinic, Ramathibodi Hospital. Journal of the Medical Association of Thailand. Vol.83, No.1 (2000), 69-76. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/26338
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Prevalence and clinical characteristics of fragile X syndrome at Child Development Clinic, Ramathibodi Hospital
Other Contributor(s)
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.