De novo Balanced Robertsonian Translocation rob(22;22)(q10;q10) in a Woman with Recurrent Pregnancy Loss: A Rare Case.

Background: Recurrent pregnancy loss (RPL), one of the most common complications of pregnancy, is responsible for significant emotional distress to the couple desiring to conceive. In almost 50% of the cases, the etiology remains unknown. The frequency of chromosomal structural rearrangements associated with a history of RPL in couples varies between 2% to 8%. Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. According to the literature, there are few RPL cases with rob (22;22).

Case Presentation: This case is a Syrian female offered to the Orient Hospital (Damascus, Syria), having RPL in the first trimester, no fetal malformations, and/or no neonatal death. She had a balanced chromosomal translocation involved the both short arms of chromosome 22. Banding cytogenetics, refined by array-proven multicolor banding (aMCB) revealed a rob (22; 22)(q10;q10). Her husband had a normal karyotype. Interestingly, chromosomal analysis was performed for her other family members and it revealed normal karyotype for all people, which indicates that translocation is of de novo origin. However, the couple did not have any living offspring after seven years of marriage.

Conclusion: The present case was a case of RPL occurring due to rob (22;22). However, the rob(22;22)(q10;10) is the cause of recurrent abortions. Couples with the history of RPL should be suggested to do cytogenetic analysis in order to estimate whether they have chromosomal rearrangement. This diagnostic approach is of great significance to figure out what causes RPL.