DISTRIBUSI KELAINAN KROMOSOM SINDROM DOWN DAN USIA IBU SAAT MELAHIRKAN DI SLB NEGERI SEMARANG

Abstract

Objective: Down Syndrome is mayor cause of 25-30% mental retardation in a part of the world. Cytogenetic studies have shown that 94% cases of Down Syndrome is Trisomy due to nondisjunction, 3,5% Translocation and 2,5% Mosaic. Nondisjunction is more common in children born to mother above 35 years age, while translocation is more common in younger mothers. The aim of this study is to know the cytogenetic distribution and maternal age of Down Syndrome at SLBN Semarang. Method: This study was a descriptive observational method. The students with characteristic of Down Syndrome from 111 mentally retarded children at SLBN Semarang during period July 2007 until June 2008 were examined. The data were collected from limited clinical examination, chromosomal analysis, and questionnaire from parents. Result: Clinically suspect Down Syndrome was found for 24 (21,62%) out of 111 mentally retarded children at SLBN Semarang during periode July 2007 until June 2008. Based on the cytogenetic examination of 20 children with suspect Down Syndrome was identified 19 children (95 %) with Trisomy 21 (excess 1 chromosom 21) and 1 child (5 %) with (46,XX) karyotipe. This study did not find translocation nor mosaic. Parents of 19 Down Syndrome children were interviewed and showed the distribution of maternal age mostly between 36-40 years age (31,57%). Suggestion: Genetic counselling and individual comprehensive examination should be undertaken for better management and prevention of Down Syndrome. Conclusion: Most Down Syndrome cases were classic trisomy 21 and born from mother >35 years old. Key Words: Down Syndrome, Maternal age, Chromosomal abnormality