Publication:
Prevalence and clinical characteristics of fragile X syndrome at Child Development Clinic, Ramathibodi Hospital

dc.contributor.authorNichara Ruangdaraganonen_US
dc.contributor.authorThanyachai Suraen_US
dc.contributor.authorNoppawan Sriwongpanichen_US
dc.contributor.authorPornprot Limpraserten_US
dc.contributor.authorTasanawat Sombunthamen_US
dc.contributor.authorNittaya Kotchabhakdien_US
dc.contributor.otherMahidol Universityen_US
dc.contributor.otherPrince of Songkla Universityen_US
dc.contributor.otherRachanukul Hospitalen_US
dc.date.accessioned2018-09-07T09:24:02Z
dc.date.available2018-09-07T09:24:02Z
dc.date.issued2000-01-01en_US
dc.description.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.en_US
dc.identifier.citationJournal of the Medical Association of Thailand. Vol.83, No.1 (2000), 69-76en_US
dc.identifier.issn01252208en_US
dc.identifier.other2-s2.0-0033628137en_US
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/20.500.14594/26338
dc.rightsMahidol Universityen_US
dc.rights.holderSCOPUSen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0033628137&origin=inwarden_US
dc.subjectMedicineen_US
dc.titlePrevalence and clinical characteristics of fragile X syndrome at Child Development Clinic, Ramathibodi Hospitalen_US
dc.typeArticleen_US
dspace.entity.typePublication
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0033628137&origin=inwarden_US

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