Cytogenetic, epidemiological and clinical profile of children with Down syndrome in Karnataka

Down syndrome is one of the best recognized and the most common chromosomal aneuploidy with high life expectancy than other chromosomal aneuploidies. The clinical features are quite distinguishing and easily identifiable, but a karyotype analysis is always better to confirm the diagnosis. It is also needed for calculating the risk of recurrence and for genetic counseling. This study was done to analyze the clinical features, cytogenetic and epidemiological profile of Down syndrome children in Tumkur and Bangalore region of Karnataka.