Abstract

Cytogenetic analysis in 24 clinically diagnosed cases of anorectal malformation carried out using GTG banding techniques showed trisomy 21, the chromosomal abnormality of Down syndrome in 4 cases. Of the 4 cases, 3 were male children and 1 was female child and the remaining 21 cases had normal karyotype of a male or female. Four cases as were found possessing the karyotype of Down syndrome were phenotypically not having the clinical symptom of a typical Down syndrome. The study has been carried out for the first time jointly from the states of Haryana and J&K.

Key words: Trisomy 21, anorectal malformation, karyotype.