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KMID : 0368819920310040689
Journal of the Korean Neuropsychiatr Association
1992 Volume.31 No. 4 p.689 ~ p.696
Chromosome Analysis in Autistic Children



Abstract
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 lymphocyte cultures in Medium 199 that contained FUdR. Numbers of chromosome were 46XX or 46XX 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.
KEYWORD
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