Autosomal chromosome aberrations among children with severe mental retardation

ABSTRACT

Over a 4 year period, 240 children with severe mental retardation were evaluated cytogenetically. Their ages ranged from 2-11 years. Peripheral blood cultures were performed using the microtechnique. Chromosome examination was done using G-banding technique. Cytogenetic studies identified 63 [26.25%] cases with abnormal karyotypes including 55. Down syndrome; 51 standard and 4 translocated Down syndrome, 1 trisomy 18, 11 cases had structural autosomal aberrations; 10 unbalanced and 1 balanced, 4 had autosomal deletion, 2 had extrachromosomal material. The study revealed the need for an increased awareness to order chromosome analysis in those individuals with severe mental retardation