KARYOTYPC STUDY IN 16O CLIN CALLY DIAGNOSED CASES OF MULTIPLE CONGEN ITAL ANOMALIES
WAHIED KHAWAR BALWAN *
DEPARTMENT OF ZOOLOGY, GOVT, DEGREE COLLEGE DODA. DODA CITY-182 202, INDIA.
SUBASH GUPTA *
DEPARTMENT OF ZOOLOGY, UNIVERSITY OF JAMMU, JAMMU-180 006, INDIA
*Author to whom correspondence should be addressed.
Abstract
Karyotypic study carried out in a total of 160 clinically diagnosed cases of multiple congenital anomalies showed 60 individuals to (37.5%) have abnormal karyotypes. Of these 60 individuals (58; 36.25%) had Trisomy 21, 2, 1.25%) had Trisomy 13. All these 60 individuals showed phenotypic-cytogenetic heterogeneity. Present study supports the importance of chromosomal analysis in the investigation of individuals with genetic disorders of unknown origin so as to confirm the clinical diagnosis that is finally useful in genetic counselling.
Keywords: Multiple Congenital Anomalies, Trisomy 21, Patau syndrome