A Novel Balanced Reciprocal Translocation and A Heteromorphism in A Patient with Recurrent Pregnancy Loss: A Case Report

Background: Recurrent pregnancy loss (RPL) as one of the most common complications of pregnancy is responsible for significant emotional distress to the couple desiring to conceive, 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 (ROBs). 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. Meanwhile the heteromorphism of chromosome 9 is the most common structural chromosomal variant and it is not thought to be of any functional importance, which often considers as a normal variation in structural poly-morphisms, nevertheless there are some studies which claim that there is an association between heteromorphism of chro-mosome 9 and some pregnancy complications.Materials and Methods: The study is 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 chromo-somal abnormalities through the G-banded karyotyping tech-nique.Results: Clinical and hormonal profile of the couple revealed 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(9;16) (q34.2;q23.2) and heteromorphism of chromosome 9 (9qh+) in the female partner.Conclusion: In the present case; a unique balanced reciprocal translocation as an original investigation and a heteromorphism of chromosome 9 in a female with the history of recurrent pregnancy loss is reported. Due to this investigation and simi-lar 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:

Recurrent pregnancy loss , Balanced reciprocal trans location , Heteromorphism , Chromosome 9 , G-banded karyotype