Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

Users Online : 17620

Original article / research
Table of Contents - Year : 2016 | Month : September | Volume : 10 | Issue : 9 | Page : GC01 - GC05

Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience GC01-GC05

Sunil Kumar Polipalli, Vijay Kumar Karra, Ankur Jindal, Madhavi Puppala, Pratiksha Singh, Kanchan Rawat, Seema Kapoor

Correspondence
Dr. Sunil Kumar Polipalli,
Department of Pediatrics, Genetics Division, Maulana Azad Medical College & Associated LNH Hospitals, New Delhi, India.
E-mail: sunilpkumar18@gmail.com

Introduction: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation.

Aim: The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis.

Materials and Methods: Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turnerís syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods.

Results: Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported.

Conclusion: We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling.