Chromosomal Anomalies in Referred Cases with Suspected Genetic Disorders: First Report from Jammu and Kashmir

In a four year period (2005-2009), a total of 161 individuals of 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 Chromosome study was carried out in all the referred cases, when the chromosomal abnormalities were detected in 91 (56.52%) 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.