Prevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital.

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dc.contributor.authorRuangdaraganon, Nen_US
dc.contributor.authorLimprasert, Pen_US
dc.contributor.authorSura, Ten_US
dc.contributor.authorSombuntham, Ten_US
dc.contributor.authorSriwongpanich, Nen_US
dc.contributor.authorKotchabhakdi, Nen_US
dc.date.accessioned2009-05-27T20:00:08Z
dc.date.available2009-05-27T20:00:08Z
dc.date.issued2000-01-11en_US
dc.descriptionChotmaihet Thangphaet.en_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.description.affiliationDepartment of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.en_US
dc.identifier.citationRuangdaraganon N, Limprasert P, Sura T, Sombuntham T, Sriwongpanich N, Kotchabhakdi N. Prevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital. Journal of the Medical Association of Thailand. 2000 Jan; 83(1): 69-76en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/42189
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAge Distributionen_US
dc.subject.meshAmbulatory Care Facilitiesen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFemaleen_US
dc.subject.meshFragile X Syndrome --complicationsen_US
dc.subject.meshGenetic Counselingen_US
dc.subject.meshHospitals, Urbanen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMass Screeningen_US
dc.subject.meshMental Retardation --diagnosisen_US
dc.subject.meshPrevalenceen_US
dc.subject.meshSampling Studiesen_US
dc.subject.meshSex Distributionen_US
dc.subject.meshThailand --epidemiologyen_US
dc.titlePrevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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