A novel balanced reciprocal translocation in a woman with recurrent pregnancy loss: a case report

Mahan Narjabadifam,1 Shahin behrouz sharif,2 Saba dayem omid,3 Aziz khorrami,4 Seyyed vahid mohaddes ardebili,5 Seyyed mojtaba mohaddes ardebili,6,*

1. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
2. Department of Human Genetics, Faculty of Medicine, Tabriz University of Medical Sciences
3. Drug Applied Research Center, Tabriz University of Medical Sciences
4. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
5. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
6. Department of Human Genetics, Faculty of Medicine, Tabriz University of Medical Sciences

Abstract

Introduction

Recurrent pregnancy loss (rpl) is one of the most common complications of pregnancy and defined as three or more consecutive pregnancy losses. 2% to 4% of rpl is associated with a parental balanced structural chromosome rearrangement, generally balanced reciprocal translocations. reciprocal translocations are usually an exchange of material between nonhomologous chromosomes with an estimation of incidence range from about 1 in 500 to 1 in 625 human newborns.

Methods

The study including an iranian azeri couple referred to the dr. mohaddes medical genetics laboratory (tabriz, iran), having a history of rpl in the first trimester. after genetic counseling, conventional chromosomal analysis of parents was done to ascertain the role of chromosomal abnormalities through the g-banded karyotyping technique.

Results

Clinical indices of the couple disclosed normal phenotypes. chromosomal analysis of the couple revealed a normal 46, xy karyotype for the male spouse, and a unique balanced reciprocal translocation 46, xx, t(2;8) (p25;q21) in the female partner.

Conclusion

In the present case; a unique balanced reciprocal translocation in a female with the history of recurrent pregnancy loss was reported as an original investigation. due to this investigation and similar studies, it seems reasonable that conventional cytogenetic analysis should be suggested for couples with the history of recurrent miscarriage in order to estimate whether they have chromosomal rearrangements.

Keywords

Balanced reciprocal translocation, recurrent pregnancy loss, g-banded karyotype