Back ground: Consanguinity (CON) is defined as marriage between the close relatives and strongly favoured among the Populations of South India and plays an important role in the high incidence of congenital malformations in children, due to Expression of rare recessive genes inherited from a a common ancestor.
Aims:The present study is undertaken to analyze the effects of CON on congenital malformation and associated chromosomal abnormalities Methods and Material: A total of 550 cases with suspected genetic etiology were referred to Division of Cytogenetics, Department of Anatomy SSMC, Tumakuru, Karnataka since 2 years. Karyotyping was done from peripheral blood lymphocyte culture and G-T-G Banding using trypsin and Giemsa. Karyotype descriptions were reported and findings were statistically analyzed and those patients with chromosomal abnormalities received post Cytogenetic Genetic counselling in our Department.Results: CON marriages were represented in 36% of cases. Stillbirths, recurrent abortion, and congenital anomalies were significantly increased. Chromosomal anomalies were grouped as structural and numerical anomalies and highest frequency of abnormal karyotype was found among cases of Down's syndrome and repeated abortion.
Conclusions:The present study is undertaken to analyze the effects of CON on Genetic disorders and associated chromosomal abnormalities which demonstrate the importance of cytogenetic evaluation, public health education, and genetic counseling.
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