Journal of Human Reproductive Science
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ORIGINAL ARTICLE Table of Contents   
Year : 2020  |  Volume : 13  |  Issue : 3  |  Page : 209-215
Clinical manifestations of chromosomal anomalies and polymorphic variations in patients suffering from reproductive failure

Department of Clinical Cytogenomics, National Reference Laboratory, Dr. Lal PathLabs Limited, Delhi, India

Correspondence Address:
Dr. Saurabh Kumar Bhattacharya
Department of Clinical Cytogenomics, National Reference Laboratory, Dr. Lal PathLabs Limited, Block E, Sector 18, Rohini, Delhi - 110 085
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jhrs.JHRS_46_19

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Background: Human reproduction is the most intricate event as ~ 20% of human pregnancies end in miscarriages for which chromosomal anomalies are a common factor. The chromosomal variations associated with reproductive failures include translocations, inversions, supernumerary marker chromosomes, heterochromatic polymorphisms, etc., Till date, the significance of heteromorphic variants in reproductive failures is unclear. Aim: The aim of this study is to investigate the role of chromosomal anomalies and polymorphic variations in reproductive failure. Materials and Methods: Chromosomal analysis using GTG banding was performed on 638 couples (1276 individuals). Results: In the present study, 138 of 1276 individuals showed chromosomal variations with respect to heterochromatic variants and Robertsonian translocations. The most common variants observed across the population studied were the pericentric inversion of the chromosome 9 [inv(9)(p11q13), 3.68%] followed by pstk + on the short arm of chromosome 15 (15pstk+, 1.95%) and Robertsonian translocation of chromosomes 13 and 14 [rob(13;14)(q10;q10), 1.25%]. The maximum percentage of heterochromatic variation was observed in females with recurrent pregnancy loss (Groups A, 4.78%) and males with wives having recurrent miscarriages (Group B, 3.68%) and the minimum was recorded in patients with in vitro fertilization (IVF) failures (Group C, 0.23%) and couples having a history of the malformed child (Group F, 0.23%). Conclusions: High level of chromosomal polymorphic variations in patients with reproductive failures warrants their in-depth analysis to nail down the causative factors. Hence, cytogenetic analysis coupled with genetic counseling becomes indispensable for patients suffering from infertility, reproductive failures and pregnancy losses before IVF treatment to rule out the carrier status.

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