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Preimplantation genetic testing results of blastocysts from 12 non- Robertsonian translocation carriers with chromosome fusion and comparison with Robertsonian translocation carriers

Fertility and Sterility Mar 11, 2021

Xie P, Li Y, Cheng D, et al. - The effects of non-Robertsonian translocation with chromosome fusion (N-RBCF) on preimplantation embryos were determined via assessing 12 couples with N-RBCF in this case series. Participants underwent assisted reproduction with preimplantation genetic testing in chromosomal structural rearrangement (PGT-SR). PGT was performed in 12 N-RBCF carriers, of whom 4 carried Y-autosome fusions and 8 autosomal fusions. Normal/balanced embryos were observed in a total of 12 (63.2%) of 19 blastocysts, and there was only one (5.3%) embryo exhibiting unbalanced translocations among Y-autosome fusion cases. Findings thereby revealed a low number of unbalanced translocations in blastocysts from N-RBCF individuals who carried the Y fusion. They indicated a higher risk of unbalanced translocation in autosomal N-RBCF than that of the Robertsonian translocation, notably in male carriers.

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