The authors studied chromosomal abnormalities in 89 autistic children meeting the diagnostic criteria of DSM-III-R. There were 65 males and 24 females, with the mean age being 74.8± 41.2months( 18-191 months). All samples were analyzed on short-term lymphocyte cultures in Medium 199 that contained FUdR. The fragile X chromosome was not found in any of the patients. There were other chromosomal abnormalities in 18(20.2%) of 89 patients, such as breakage, 11 cases(12.4%) ; gap, 5 cases(5.6%) ; breakage and gap, 1 case (1.1%) ; and large Y, 1 case(l.l%) . In the grouping of chromosomal abnormalities, group A patients were 5 cases(5.6% ;group B 2 cases(2.2%) ; group C3 cases(3.4%) ; group G(large Y ) 1 case(l.l% ) ; group A and B1 case ; group A and E 1 case ; group C and E 1 case ; group A, B and C1 case. In the 16 symptoms of autistic disorder, ‘ abnormal form or content of speech’ was more frequent(p=0.0353) in patients with chromosomal abnormalities than in patients without chromosomal abnormalities, and ‘ abnormal production of speech’ was more frequent, though statistically not significant(p=0.0601). These results do not support the hypothesis that fragile X chromosome is an etiological factor in autistic disorder.
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