Karyotypic Detection of Chromosomal Abnormalities in Referred Cases with Suspected Genetic Disorders

In the present study, a total of 150 individuals in different age group presenting clinical profile like genetically uncertain syndrome, multiple congenital anomalies, short stature, facial dysmorphism, abnormal behaviour, unclassified mental retardation and Down syndrome were referred to the Human Genetic Research cum Counselling centre, Jammu to rule out chromosomal abnormality. Chromosome study was carried out in all the referred cases, and the chromosomal abnormalities were detected in 77 (51.33%) individuals. Besides chromosome study, some non-cytogenetic factors like maternal age, male: female ratio, birth order and consanguinity have also been studied to find out the possible association of these factors with chromosomal aberrations in referred patients.