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Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma

5 Dec 2019

Abstract excerpt

BACKGROUND: Trophectoderm (TE) biopsy and next generation sequencing (NGS) are currently the preferred techniques for preimplantation genetic testing for aneuploidies (PGT-A). Although this approach delivered important improvements over previous testing strategies, increased sensitivity has also prompted a rise in diagnoses of uncertain clinical significance. This includes reports of chromosomal mosaicism,...

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Share to Genetic Syndromes and Imprinting
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PMID: 32141501
DOI: 10.1093/humupd/dmz050

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