Blastocyst segmental aneuploidy breakpoints are highly correlated with human genome fragile sites.

doi:10.1093/humrep/deaf151

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Article

Blastocyst segmental aneuploidy breakpoints are highly correlated with human genome fragile sites.

Human reproduction (Oxford, England) - 1 Oct 2025

de Quadros Elaine, Xu Jia, Treff Nathan, Marin Diego, Freedman Arielle, Milevski Cristian, Miller Kathleen, Bian Minglei

Abstract excerpt

STUDY QUESTION: Are segmental aneuploidies identified in human embryos more likely to occur within known fragile sites of the genome? SUMMARY ANSWER: Segmental breaks in the autosomes of human preimplantation embryos occur more frequently in known fragile areas of the genome. WHAT IS KNOWN ALREADY: Fragile sites represent specific loci in the genome characterized by inhibition of DNA synthesis when exposed to...

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Topics

Humans
Aneuploidy
Female
Adult
Chromosome Fragile Sites
Blastocyst

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Preimplantation Diagnosis

Retrospective Studies

Polymorphism, Single Nucleotide

Genome, Human

Pregnancy

Genetic Testing

Fertilization in Vitro

Source

Open in PubMed

Identifiers

PMID: 40739725
DOI: 10.1093/humrep/deaf151

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