Recurrent miscarriages and balanced translocation t(4;9)(q21;q13)

Abstract

The structural chromosomal rearrangements are common in general population. Even balanced translocation carriers could have risk for having children with unbalanced chromosomes, they are phenotypically normal. Therefore, translocation can be observed with a higher incidence in couples with a history of recurrent abortions than the general population. In this study, we presented a 20 year old female patient referred to our laboratory from Department of Gynecology and Obstetrics. She had two abortions in the first trimester (12 and 8 gestational weeks). She does not have any living child. Her other past medical history and physical examination were unremarkable. The family history of proband revealed that her mother had three girls and three boys alive. The 40 year-old mother of proband's husband had a stilbirth. According to G-banding karyotype analysis, balanced translocation, 46, XX, t(4;9) (q21;q13), was diagnosed in the peripheral blood taken from her and her mother. Balanced translocation carriers could give unbalanced chromosomes to their newborn child. Also this observed situation shows an increase in the risk of abortion and physical anomalies. We concluded that the abortions in the family carrying balanced translocation might be due to the unbalanced distribution of chromosome translocation during gamete formation. Prenatal diagnosis should be recommended for their further pregnancies. © 2012 OMU.