文章基本信息

标题：CONSANGUINITY AND CHROMOSOMAL ABNORMALITIES
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作者：Lakshmi Prabha Subhash R ; Anupama D ; Jayarama S Kadandale 等
期刊名称：International Journal of Anatomy and Research
印刷版ISSN：2321-4287
出版年度：2017
卷号：5
期号：4
页码：4531-4537
DOI：10.16965/ijar.2017.393
出版社：International Journals of Medical and Health Research
摘要：Back ground: Consanguinity (CON) is defined as marriage between the close relatives and strongly favouredamong the Populations of South India and plays an important role in the high incidence of congenitalmalformations 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 associatedchromosomal abnormalitiesMethods 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 bloodlymphocyte culture and G-T-G Banding using trypsin and Giemsa. Karyotype descriptions were reported andfindings were statistically analyzed and those patients with chromosomal abnormalities received post CytogeneticGenetic counselling in our Department.Results: CON marriages were represented in 36% of cases. Stillbirths, recurrent abortion, and congenital anomalieswere significantly increased. Chromosomal anomalies were grouped as structural and numerical anomaliesand 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 associatedchromosomal abnormalities which demonstrate the importance of cytogenetic evaluation, public healtheducation, and genetic counseling.
关键词：Consanguinity; Congenital anomalies; chromosomal anomalies; Nondysjunctions; Autosomal;recessive.