62 246

Cited 8 times in

Fragile X syndrome in Korea: a case series and a review of the literature.

Authors
Yim, SY; Jeon, BH; Yang, JA; Kim, HJ
Citation
Journal of Korean medical science, 23(3):470-476, 2008
Journal Title
Journal of Korean medical science
ISSN
1011-89341598-6357
Abstract
The purposes of this study were to present DNA analysis findings of our case series of fragile X syndrome (FXS) based on methylation-specific polymerase chain reaction (MS-PCR), PCR, and Southern blotting alongside developmental characteristics including psychological profiles and to review the literature on FXS in Korea. The reports of 65 children (male:female, 52:13; age, 6.12+/-4.00 yrs) referred for the diagnosis of FXS over a 26-months period were retrospectively reviewed for the identification of full mutation or premutation of fragile X mental retardation 1 (FMR1). Among the 65 children, there were 4 boys with full mutation, and one boy showed premutation of FMR1, yielding a 6.15% positive rate of FXS. All 4 children with full mutation showed significant developmental delay, cognitive dysfunction, and varying degrees of autistic behaviors. The boys with premutation showed also moderate mental retardation, severe drooling, and behavioral problems as severe as the boys with full mutation. Thirteen articles on FXS in Korea have been published since 1993, and they were reviewed. The positive rate of FXS was in the range of 0.77-8.51%, depending on the study groups and the method of diagnosis. Finally, the population-based prevalence study on FXS in Korea is required in the near future.
MeSH terms
ChildChild, PreschoolFemaleFragile X Mental Retardation Protein/genetics*Fragile X Syndrome/diagnosisFragile X Syndrome/epidemiology*Fragile X Syndrome/genetics*HumansInfantKorea/epidemiologyMaleMutationPrevalence
DOI
10.3346/jkms.2008.23.3.470
PMID
18583885
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Physical Medicine & Rehabilitation
AJOU Authors
임신영김현주
Full Text Link
Files in This Item:
jkms-23-470-476.pdfDownload
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse