자폐장애 아동의 염색체 분석

Chromosome Analysis in Autistic Children

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