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IJAR.2017.393

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Type of Article:  Original Research

Volume 5; Issue 4.1 (October 2017)

Page No.: 4531-4537

DOI: https://dx.doi.org/10.16965/ijar.2017.393

CONSANGUINITY AND CHROMOSOMAL ABNORMALITIES

Lakshmi Prabha Subhash  R *1, Anupama D 2, Jayarama S  Kadandale 3, Meenakshi Bhat 4, Harshal K  L 5, Khizer Hussain Afroze M 6.

*1 Professor and HOD, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India.

2 Associate Professor, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India.

3 Consultant cytogenetist, Division of cytogenetic, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India.

4 Genetic Counsellor, Division of cytogenetic, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India.

5 Research Associate, Division of cytogenetic, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India.

6 Research Scholar, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India.

Corresponding Author’s Mailing Address: Dr. Lakshmi Prabha Subhash R, Professor and HOD, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India. Mobile phone no:  +91- 9620769595 E-Mail:  lakshmiprabha100@yahoo.com

ABSTRACT:

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.

KEW WORDS: Consanguinity, Congenital anomalies, chromosomal anomalies, Nondysjunctions, Autosomal recessive.

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Cite this article: Lakshmi Prabha Subhash R, Anupama D, Jayarama S Kadandale, Meenakshi Bhat, Harshal K L, Khizer Hussain Afroze M. CONSANGUINITY AND CHROMOSOMAL ABNORMALITIES. Int J Anat Res 2017;5(4.1):4531-4537. DOI: 10.16965/ijar.2017.393