SKRINING SITOGENETIKA PADA ANAK-ANAK RETARDASI MENTAL DI SLB NEGERI SEMARANG

Abstract

Mental retardation is defined as significant subaverage intellectual function existing concurrently with deficits in adaptive behaviour and manifested during the developmental period. Mental retardation occurs in 2-3% of the general population. Prevalence of milder MR is seven to ten times more than severe MR. It can be caused by insult in developmental period such as prenatal, perinatal, and postnatal. Down syndrome is the most common genetic cause of mental retardation, whereas Fragile X syndrome is the greatest number familial cause of mental retardation. This research used descriptive method. Samples were used in this research were 61 children from Semarang State Special School which the cause of MR is unexplained yet. They were selected by limited physical examination to exclude child with Down Syndrome which has definitely clinical characteristic, multiple malformation, and mute-deafness. Each blood sample was cultured in TC media and in MEM media which is added by thymidine as folic inhibitor. Then chromosome examined by G-banding method. From 61 samples with giemsa staining that cultured in TC media and MEM media did not show fragile site. From samples examined by banding technique showed an abnormal chromosomal number that is trisomy 21(47,XY+21) and showed an abnormal chromosome structure that is deletion and duplication which has chromosome constitution 46,XY,del(4)(q35.2), dup(10)(qter). This research needs to be continued with molecular test to know the abnormality at DNA level.