For the present investigation a study group of total 90 subjects consisting of 40 confirmed subjects and 50 controls were undertaken to assess the frequency of different phenotypic features and congenital/ clinical complication of Down syndrome referrals. Cytogenetic profile, for confirmation, is studied and compared in both the group and these results were significantly different from control on comparison, as Karyotype was normal in healthy controls but not in confirmed group. Clinical features like mongoloid face, flat facial profile, epicanthic fold, simian crease in palm, saddle gap, open mouth, protruding tongue and other complications were more pronounced in Down syndrome group than control group. Present study laid stress upon importance of thorough clinical examination of referrals, for their confirmation at chromosomal level.
