Trisomy 21 in children born with anorectal malformation

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.