Rare Double Reciprocal Translocations in a Man with Reproductive Success and Recurrent Pregnancy Loss

Double reciprocal translocations represent an extremely rare cytogenetic entity. Carriers have a significantly increased risk of producing unbalanced gametes during meiosis, which can lead to adverse reproductive outcomes such as miscarriages or offspring with congenital anomalies. Despite the high reproductive risk, they can give birth either to a balanced translocation carrier with a normal phenotype (similar to the parents) or to a chromosomally normal completely healthy infant, resulting only from alternate 2:2 segregation. Here, we report an exceptional case of double-balanced reciprocal translocations involving four chromosomes (1, 3, 15 and 18) in a phenotypically normal male partner. The couple was investigated due to a history of recurrent pregnancy loss, having already had one phenotypically normal child. The aim of this report is to analyze the cytogenetic finding, predict the possible meiotic segregation outcomes, and discuss the implications in genetic counseling.