{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T17:03:24Z","timestamp":1775149404387,"version":"3.50.1"},"reference-count":35,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"abstract":"<jats:p>Introduction: The influence of X\/Y-autosomal translocations on reproductive competence is determined by both the cytogenetic positioning of translocation breakpoints and the potential disruption of critical genomic regions essential for reproductive physiology, particularly gene-dense Y-chromosomal segments or X-chromosome loci associated with ovarian folliculogenesis. This investigation examined 4 cases of cytogenetically balanced X\/Y-autosomal translocations through the single-nucleotide polymorphism (SNP) and preimplantation genetic testing for structural rearrangements (SNP-based PGT-SR), enabling concurrent assessment of embryonic chromosomal integrity and precise differentiation between euploid embryos and balanced translocation carriers. Cases Presentation: Cases 1\u20132 exhibited Y-autosomal translocations with breakpoints localized to the azoospermia factor critical region, while cases 3\u20134 demonstrated X-autosomal translocations where breakpoints mapped outside ovarian functional domains (Xq13-q28). Embryo selection utilizing SNP-based PGT-SR achieved clinical transfer of euploid embryos lacking the parental translocation in cases 2 and 4. Case 3, following multidisciplinary counseling, opted for transfer of a balanced translocation carrier euploid embryo with conserved genomic architecture. Prenatal diagnostic evaluations demonstrated complete concordance with PGT-SR outcomes. Conclusion: The impact of chromosomal translocation on reproduction is contingent upon whether the breakpoint location influences critical functional regions. SNP-based PGT-SR can accurately determine the genetic status of embryos exhibiting balanced X\/Y-autosomal translocations by systematically evaluating the integrity of the embryo\u2019s genetic material. This approach enhances detection accuracy and mitigates the risk of transmitting the translocation to subsequent generations.<\/jats:p>","DOI":"10.1159\/000548936","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T16:00:46Z","timestamp":1760457646000},"page":"112-124","source":"Crossref","is-referenced-by-count":0,"title":["Assessing the Genetic Integrity of Embryos Carrying X\/Y-Autosome-Balanced Translocations through SNP-Based 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