EVALUASI DISMORFOLOGI DAN ANALISIS KROMOSOM PADA SISWA RETARDASI MENTAL DI SLB NEGERI SEMARANG

Abstract

Backgrounds Mental retardation is a common disorder that can be found in about 0,5-3% population. Chromosome abnormalities are responsible in 28% of known cause of mental retardation which can also manifest as dysmorphology appearance. These two abnormal conditions might appear together and point a diagnosis. It has been proved in a study that dysmorphology examination has an important role in MR diagnostic. This research is aimed to know the dysmorphology and chromosome analysis description in mentally retarded pupils in SLB Negeri Semarang. Methods This research is observational descriptive study with retrospective data taken start from 2007-2009 by processing the result of dysmorphology examination and chromosome analysis in 54 pupils. Data were presented in descriptive statistic after have been analyzed in Microsoft Excel. Result Chromosome analysis results 43 pupils with 46, XY karyotype, 9 pupils with 46 XX karyotype, 1 pupil with 46, XY+21 karyotype, and 1 pupil with 46, XY, del(4)(p16) karyotype. Dysmorphology evaluation results 251 dysmorphology features in 54 research subjects. The number for each frequency and percentage of dysmorphology feature are shown in table based on regional body part. Conclusion Two chromosomal abnormalities are found in SLB Negeri Semarang pupils, Down Syndrome (46, XY+21) and Wolf Hirschhorn Syndrome (46, XY, del(4)(p16)). The average number of dysmorphology feature possessed by each pupils is 3-5 abnormalities. The most frequent dysmorphology findings are telecanthus, upslanting palpebra fissure, dan low set ears. Keywords mental retardation, chromosome analysis, dysmophology, SLB Negeri Semarang