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Article

Segmental aneuploid hotspots identified across the genome concordant on reanalysis

1 Dec 2022

Abstract excerpt

The aim of this study was to characterize a large set of full segmental aneuploidies identified in trophectoderm (TE) biopsies and evaluate concordance in human blastocysts. Full segmental aneuploid errors were identified in TE biopsies (n = 2766) from preimplantation genetic testing for aneuploid (PGT-A) cycles. Full segmental deletions (n = 1872; 66.1%) presented twice as many times as duplications (n = 939;...

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Share to Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 36458926
DOI: 10.1093/molehr/gaac040

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