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 patientsí 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.



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