Abstract :
Genetic disorders are diseases caused due to an abnormality in an individual’s genetic makeup which affect an individual for life and can rarely be treated. The aim of the study was to understand the phenotypic and behavioural characteristics and constitutive genetic abniormalities in Down syndrome and autistic children through conventional cytogenetic technique. A total of twenty cases were counselled and recruited for the present study. The peripheral blood samples were cultured in complete nutrient medium for chromosome analysis, including karyotyping, and assessment of micronucleus and apoptosis. Gbanding analysis of 25 metaphases in classified form detected the constitutive aberrations and study of 1000 cells enumerated the frequencies of micronucleated and apoptotic cells. Chromosomally all DS children had trisomy 21, and all autistic children had normal karyotypic constitution. The micronuclei count and apoptosis appeared higher in Down syndrome than that of autism, which indicates higher genetic instability and risk of neoplasia. Identification of the genetic etiology and relevant counselling would be helpful for the parents of the genetically impaired children for better understanding of the present and future health, and be better equipped emotionally.
Keyword :
Genetic disorders; chromosomal abnormalities; micronuclei.