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Chromosomal Abnormalities in Mentally Retarded Boys Other than Down's Syndrome in Indonesian Special Schools

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Chromosomal abnormalities is a leading cause of mental retardation. The most common genetic cause of mental retardation is trisomy 21, followed by fragile-X syndrome which is inherited i.e passed on from generation to generation. Chromosomal disorders in mentally retarded children have not been studied in Indonesia. This paper reports a survey of chromosomal abnormalities in mentally retarded children attending special schools for mild mental retardation (type C) in Semarang and two towns in Central Java, Indonesia (Cilacap and Purbalingga). A total of 460 pupils as subjects (from 6 schools) were clinically screened. A cytogenetic study was made on 164 mentally retarded boys without Down's syndrome facies. Of the 340 subjects in Semarang, 42 (12.3 percent) had Down's syndrome clinically. In the rural area we identified 5 (8.7 percent) Down's syndrome out of 57 pupils in Purbalingga and 8 (12.6 percent) out of 63 pupils in Cilacap. Cytogenetic study in Semarang identified four (3.1 percent) fragile-X syndrome and seven (5.46 percent) other aneuploid constitutions. The positive fragile -X cytogenetic findings were confirmed with DNA study. Cytogenetic study in the samples from rural area only identified one case of chromosomal abnormality.

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Medical Journal of Indonesia,5(3)1996:123-127

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: ., 1996

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chromosome abnormalities
mental retardation
down syndrome

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