The Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report

Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with multiple skeletal disorders was found to carry a balanced 13/ 14 RBT 45, XX, t(13q; l4q). Three generations of her family, including her parents and her maternal grandparents were investigated for cytogenetic analysis. All of them were phenotypically normal. Her mother appeared in a peculiar karyotype of 44, XX, t (13q; 14q) ×2, while her father revealed a normal karyotype 46, XY. Chromosomal constitution of her grandparents showed that both of them carried this balanced reciprocal translocation 45, XY t (13q; 14q) as well as 45, XX, t (13q;14q). Cytogenetic evaluation on the basis G-banding technique was performed for participants. Since except the 9 years girl, all RBT carriers in this family appeared phenotypically normal, her skeletal disorders might not be due to chromosomal rearrangement. Meanwhile, all offsprings of 44, XX woman are obligatory carriers of this translocation, and should be candidates for prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD), for their future pregnancies.