Study of chromosomal aberrations in cases of suspected genetic disorders from Jammu & Kashmir, India Balwan Wahied Khawar1,*, Sharma Shalu2, Gupta Subash2 1Department of Zoology, Govt. Degree College Doda, Doda city -182202, J &K, India 2Department of Zoology, University of Jammu, Jammu-180006, J &K, India *Corresponding Author: Dr. Wahied Khawar Balwan, Assistant Professor, Department of Zoology, Govt. Degree College Doda, Doda City, Dist. Doda-182202, J &K, India. Email: wahied_kb@yahoo.co.in
Online published on 22 February, 2013. Abstract Chromosome study carried out in a total of 205 clinically diagnosed cases of multiple congenital anomalies showed 71 individuals to (34.6%) have abnormal karyotypes. Of these 71 individuals (58; 28.3%) had Trisomy 21, (2; 0.9%) had Trisomy 13, (6; 2.9%) had Turner syndrome, (4; 1.9%) had Klinefelter syndrome and (1; 0.5%) Double Trisomy. All these 71 individuals showed phenotypic-cytogenetic heterogeneity. Present study supports the importance of cytogenetic 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. Top Keywords Multiple congenital anomalies, Trisomy 21, Turner syndrome, Klinefelter syndrome. Top |