Clinical analysis of balanced chromosomal translocation with primary infertility in couples

Abstract Background:Two chromosomes undergo a break and exchange with each other, then the formation of two new derived chromosomes without a mitotic break is a reciprocal translocation. Reciprocal translocations are relatively common structural aberrations that can occur on any chromosome. Reciprocal translocations are called balanced translocations when there is only a change in position and no visible gain or loss of chromosome segments. Chromosomal translocations are rearrangements based on chromosomal breaks resulting in abnormal chromosome structure and are an important cause of habitual abortion and fetal malformations[1]. Method: The karyotypes of patients were analyzed by collecting peripheral blood for lymphocyte culture, chromosome harvesting, filming, and G dominant band staining. Result: The chromosomal results of the couples were 46, XY,t(13;16)(q34;q12.1) and 46, X,t(X;3)(p22.1;q26.2). They are both chromosomally balanced translocation carriers, with translocations occurring on chromosomes 13, 16, X, and 3. Their chromosome breakpoints are q34, q12.1, p22.1, and q26.2. Conclusion: It is clinically rare for couples to be both chromosomal translocation carriers simultaneously. Abnormal chromosome structure is one of the leading causes of primary infertility in males or females[2]. Preimplantation genetic testing (PGT) allows genetic testing of gametes or embryos of chromosomal translocation carriers and selection of healthy or translocated embryos for transfer to solve the fertility problems faced by chromosomal translocation carriers.