자폐장애 아동의 염색체 분석

• 영문명: Chromosome Analysis in Autistic Children
• 발행기관: 대한신경정신의학회
• 저자명: 채성수 정철호 하재창
• 간행물 정보: 『신경정신의학』제31권 제4호, 689~696쪽, 전체 8쪽
• 주제분류: 의약학 > 정신과학
• 파일형태: PDF
• 발행일자: 1992.07.30

영문 초록

The authors studied chromosomal abnormalities in 30 autistic children meeting the diagnostic criteria of DSM-III-R in order to evaluate association between autistic disorder and fragile X syndrome. All samples were analyzed 100 metaphase cells on short-term lmyphocyte cultures in Medium 199 that contained FUdR. Numbers of chromosome were 46XX or 46XY in all samples. One autistic boy was found having one fragile X chromosome among 100 cells, but this finding is negative since positivity of fragile X syndrome was defined as 3%(3 out of 100) of cells being positive for fragile Xq27-28. Other chromosomal abnormalities, such as gap and breakage, were found in 3 boys. These results does not support the hypothesis that fragile X syndrome is an etiological factor in autistic disorder. Therefore, a further research of fragile X syndrome in larger populations of autistic disorder, mental retardation and normal control groups is needed to confirm whether fragile X syndrome plays any part in the development of autistic disorder

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키워드

Autistic disorder Fra(X) syndrome Coromosomal abnormality