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Assessing the Genetic Integrity of Embryos Carrying X/Y-Autosome-Balanced Translocations through SNP-Based PGT-SR
Yueyun Lan1,2,3,4,5, Jinhui Shu1,3, Sheng He1,2,3,4,5,6,7
1Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Cytogenetic and Genome Research
|October 14, 2025
Summary
X/Y-autosomal translocations impact reproductive competence based on breakpoint location. Single-nucleotide polymorphism (SNP)-based preimplantation genetic testing for structural rearrangements (PGT-SR) accurately assesses embryonic genetic status, preventing translocation transmission.
Area of Science:
- Human Genetics
- Reproductive Biology
- Cytogenetics
Background:
- Reproductive competence is influenced by X/Y-autosomal translocations, dependent on breakpoint location and disruption of critical reproductive genes.
- Ovarian folliculogenesis and male fertility can be compromised by translocations affecting specific X-chromosome loci or Y-chromosomal segments.
- Investigating balanced X/Y-autosomal translocations requires precise methods to assess embryonic chromosomal integrity.
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