Association of A Novel Balanced Reciprocal Translocation and Recurrent Miscarriage: A Case Report

Background and Aim : Recurrent miscarriage as one of the most prevalent complications of pregnancy is three or more consecutive pregnancy losses. About 2% to 4% of recurrent miscarriages are associated with parental structural chromosome rearrangements, of which balanced reciprocal translocations (ROBs) play a major role. ROBs are the material shift between nonhomologous chromosomes. Carriers of ROBs have greater risks of generating gametes with unbalanced chromosome translocations, which in turn can lead to infertility, miscarriage or children with abnormalities. The current study evaluates a patient with a novel balanced reciprocal translocation which is associated with recurrent miscarriage.Methods : In this study, we investigated a phenotypically normal Iranian Azeri couple referred to the Dr. Mohaddes Medical Genetics Laboratory (DMMGL), with a history of recurrent miscarriage in the first trimester. After genetic counseling, conventional chromosomal analysis of parents was performed on the basis of G-Banding for both partners to ascertain the role of chromosomal abnormalities.Results : Clinical and hormonal indices of the couple disclosed normal phenotypes and the ultrasound scan of the female showed normal uterus and ovaries. chromosomal analysis of the couple revealed a normal 46,XY Karyotype for the male spouse, and a unique balanced reciprocal translocation 46,XX,t(1;8)(p36.2;q24.2) in the female partner.Conclusion : In the present case; a unique balanced reciprocal translocation in a female with a history of recurrent pregnancy loss is reported as an original investigation. Due to this research and similar studies, it seems advisable that conventional cytogenetic analysis should be proposed for couples with a history of recurrent miscarriage in order to evaluate whether they have chromosomal rearrangements.

Keywords:

Recurrent Miscarriage , Infertility , Balanced Reciprocal Translocation (ROB) , Chromosomal Rearrangements , G-banded Karyotype