Balkan Journal of Medical Genetics

A FAMILIAL CASE REPORT OF A 13;22 CHROMOSOMAL TRANSLOCATION WITH RECURRENT INTRACYTOPLASMIC SPERM INJECTION FAILURE
Verma S, Shah R, Bhat A, Bhat GR, Dada R, Kumar R,
*Corresponding Author: Dr. Rakesh Kumar, Assistant Professor, Coordinator, Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu & Kashmir, 182320, India. Tel.: +91-91-285-695; ext. 2288. Mobile: +91-94-419-279-629. Fax: +91-91-285-694. E-mail: kumar.rakesh@ smvdu.ac.in
page: 73

INTRODUCTION

Reproductive failure is the inability to achieve conception or sustain a pregnancy to term. It is estimated that fetal viability is only achieved in 30.0% of all human conceptions [1]. Chromosomal abnormalities are a known contributory factor in infertility, bad obstetric history (BOH) and spermatogenetic arrest. Male infertility may be associated with chromosomal abnormalities, involving sex chromosomes (4.0-8.0%) and autosomes (1.0-2.0%) [2]. Complete spermatogenic and partial spermatogenetic arrest is mainly associated with sex chromosomal aneuploidies and autosomal structural abnormalities, respectively [3]. The frequency of autosomal reciprocal translocations is estimated to be 0.25% in the general population, 0.5% in azoospermia and 0.7% in oligozoospermia [4,5]. The incidence of these genetic abnormalities increases with decline in semen quality [6]. Kumar et al. [7] showed that Robertsonian translocations t(13;14) and t(13;13) are associated with extremely poor semen quality (low sperm count and abnormal sperm morphology). Guichaoua et al. [8] reported a sterile male with 14:22 Robertsonian translocation, who was oliogoasthenozoospermic with normal sperm morphology. Reciprocal translocation carriers are phenotypically normal but with poor semen quality [9] and their severity depends on whether they are balanced or unbalanced. Unbalanced reciprocal translocations cause severe effects ranging from low IQ, mental retardation, physical and skeletal defects [10]. Balanced translocations show variable sperm parameters, ranging from normal sperm count to oligospermia or azoospermia [4]. Even in patients with a normal sperm count, reciprocal translocation carriers are at a higher risk of pre and post implantation losses or abnormal pregnancy outcomes. Chromosomal translocations are known to result in poor quality of blastocyst and implantation failure. Assisted reproductive technique (ART) intracytoplasmic sperm injection (ICSI) has proved to be a boon to men with poor semen quality [11], but in developing countries such as India, the cost of recurrent ART failures take a toll on patients’ financial and emotional well being. Couples having a history of spontaneous abortions should undergo genetic analysis and counselling before planning ART, particularly ICSI, where critical natural steps are bypassed.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact