Chromosomal aberrations: A cytogenetic study of suspected cases in North Indian populations.

Abstract Introduction Every year, a considerable number of children with genetic diseases are born in India over half a million with deformities, and another 21,000 with Down syndrome, owing to the country’s high birth rate. Recurrent abortions (12.4%), recognizable syndromes (12.1%), chromosomal anomalies (11.3%), and mental retardation were the top four diseases identified in multi-centric research findings on cases referred for genetic counseling (11%).ObjectiveTo study the prevalence of chromosomal anomalies in hospitals, captured suspected patients from the North Indian population.Material and MethodsBlood lymphocyte culture was used for metaphase chromosome preparation. The G-banded karyotypes of 244 suspected patients referred by IMS and BHU during the last five months (December 2021 to April 2022) were analyzed to study the chromosomal anomalies.Results Out of the all chromosomal abnormality, 64.58 % were cases of Down syndrome, and 14.58 % of the cases had Philadelphia chromosomes. 10.41 % had Klinefelter syndrome and 4.10% of cases are Turner. However, 2% of the cases were XXXY, X q arm deletion, and mosaic form. Based on these retrospective study observations, the prevalence of chromosomal anomalies in suspected hospitalized patients of the North Indian population was calculated as 19.67%.ConclusionThe prevalence of chromosomal anomalies in the north Indian population may differ greatly from data from the United States. Chromosomal abnormalities can be diagnosed and managed more quickly with cytogenetic testing methods.