The Science Journal of the Lander College of Arts and Sciences
Abstract
Reciprocal balanced translocations occur when one part of a chromosome is exchanged with another, resulting in zero net loss of genetic material. While individuals with a balanced translocation are phenotypically normal, a translocation can cause increased risk of infertility, recurrent pregnancy loss, and the birth of a child with unbalanced chromosomes. In order to adequately guide an individual in their reproductive decisions, geneticists must be able to assess the risk of the patient’s unique translocation. An analysis of three recent studies reveals several factors which play a role in mediating the effects of balanced translocations and directly affect reproductive risk for carriers. Chromosome specific factors, such as breakpoint location - both inter- and intra- chromosomally - have a direct relationship with reproductive risk. Likewise, carrier gender, method of ascertainment (how the individual discovered their carrier status), and a history of recurrent pregnancy loss are other important risk factors. In addition, for male carriers of a balanced translocation, spermatic nuclear reconfiguration may contribute to reproductive risk. All of these factors are important predictors of risk for translocation carriers and may significantly aid geneticists and clinicians in disseminating reproductive risk for patients with balanced translocations.
Recommended Citation
Talia Alter. (2025). Factors Mediating the Reproductive Risk for Balanced Chromosomal Translocation Carriers. The Science Journal of the Lander College of Arts and Sciences, 19(1), 92-97. Retrieved from https://touroscholar.touro.edu/sjlcas/vol19/iss1/13
