ANALISIS KROMOSOM PADA SISWA RETARDASI MENTAL DENGAN MAKROSEFALI

Abstract

Backgrounds : Mental retardation is a multi-factorial disorder. One of its etiology is chromosomal abnormality which can also manifest in dysmorphic feature. Macrocephaly is one of dysmorphic features that can be found in mental retardation. This research aimed to detect the chromosomal abnormality in mentally retarded students with macrocephaly in several special schools in Semarang. Methods : This observational descriptive research was performed with retrospective data starting from 2007-2009. Subjects were mentally retarded students in Hj.Soemiyati Himawan and YPAC Semarang Special School. Data of head circumference measurement and cytogenetical study results of all subjects were presented in tables. Result : From the physical measurement of head circumference in 60 mentally retarded students, 4 students were found with macrocephaly, 30 students were found with microcephaly, and 26 students were found with normocephaly. Cytogenetical studies in 4 students with macrocephaly resulted that 3 students were 46,XY and 1 student was 46,XX. None of them had abnormality in karyotype. Conclusion : Four out of 60 students are found with mental retardation and macrocephaly. Nevertheless, from the cytogenetical examination, none of them has abnormality in karyotype. Three of them are 46,XY and the one is 46,XX. Further chromosomal analysis is needed to ensure the chromosomal abnormalities specificly. Keywords: mental retardation, chromosome analysis, macrocephaly