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

Elaine de Quadros^1,2, Jia Xu³, Nathan Treff³, Diego Marin³, Arielle Freedman⁴, Cristian Milevski⁴, Kathleen Miller⁴, Minglei Bian¹

¹Department of Reproductive Clinical Science, Embryology & Andrology, Eastern Virginia Medical School (part of Macon & Joan Brock Virginia Health Sciences at Old Dominion University), Norfolk, VA, USA.

²Reproductive Specialists of the Carolinas Embryology Laboratory, Charlotte, NC, USA.

³Genomic Prediction, Hackettstown, NJ, USA.

⁴IVF Florida Embryology Laboratory, Margate, FL, USA.

PubMed DOI

Abstract

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 w…

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