Articles with "segmental aneuploidies" as a keyword



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8. SEGMENTAL ANEUPLOIDIES SHOW MOSAIC PATTERN REDUCING PREDICTIVE VALUE COMPARED TO HIGH WHOLE CHROMOSOME ANEUPLOIDIES REPRESENTATIVENESS

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Published in 2019 at "Reproductive BioMedicine Online"

DOI: 10.1016/j.rbmo.2019.04.043

Abstract: Introduction The introduction of highly sensitive Next Generation Sequencing (NGS) platforms for PGT-A applications concurred with an increased detection of segmental aneuploidies. Recent studies focused on understanding whether segmental aneuploidies derive from mitotic or meiotic… read more here.

Keywords: whole chromosome; chromosome; predictive value; segmental aneuploidies ... See more keywords
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Concordance of various chromosomal errors among different parts of the embryo and the value of re-biopsy in embryos with segmental aneuploidies

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Published in 2020 at "Molecular Human Reproduction"

DOI: 10.1093/molehr/gaaa012

Abstract: Abstract Chromosomal mosaicism detected during preimplantation genetic testing for aneuploidy (PGT-A) and its impact on embryo implantation have been widely discussed, and healthy live births from mosaic embryos were reported by many groups. On the… read more here.

Keywords: te1; biopsy; segmental aneuploidies; biopsy embryos ... See more keywords
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Segmental aneuploid hotspots identified across the genomeconcordant on re-analysis.

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Published in 2022 at "Molecular human reproduction"

DOI: 10.1093/molehr/gaac040

Abstract: 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… read more here.

Keywords: aneuploid errors; full segmental; analysis; segmental aneuploidies ... See more keywords
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The impact of monosomies, trisomies and segmental aneuploidies on chromosomal stability

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Published in 2022 at "PLoS ONE"

DOI: 10.1371/journal.pone.0268579

Abstract: Aneuploidy and chromosomal instability are both commonly found in cancer. Chromosomal instability leads to karyotype heterogeneity in tumors and is associated with therapy resistance, metastasis and poor prognosis. It has been hypothesized that aneuploidy per… read more here.

Keywords: impact monosomies; aneuploidies chromosomal; monosomies trisomies; impact ... See more keywords