8. SEGMENTAL ANEUPLOIDIES SHOW MOSAIC PATTERN REDUCING PREDICTIVE VALUE COMPARED TO HIGH WHOLE CHROMOSOME ANEUPLOIDIES REPRESENTATIVENESS
Sign Up to like & getrecommendations! 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
Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma
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DOI: 10.1186/s13039-020-0478-5
Abstract: Background Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data… read more here.
Keywords: invasive prenatal; sex chromosome; chromosome aneuploidies; prenatal testing ... See more keywords
Pseudoautosomal Region 1 Overdosage Affects the Global Transcriptome in iPSCs From Patients With Klinefelter Syndrome and High-Grade X Chromosome Aneuploidies
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DOI: 10.3389/fcell.2021.801597
Abstract: Klinefelter syndrome (KS) is the most prevalent aneuploidy in males and is characterized by a 47,XXY karyotype. Less frequently, higher grade sex chromosome aneuploidies (HGAs) can also occur. Here, using a paradigmatic cohort of KS… read more here.
Keywords: high grade; grade; klinefelter syndrome; pseudoautosomal region ... See more keywords
Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.928874
Abstract: Purpose: The landscape of circular RNAs (circRNAs), an important class of non-coding RNAs that regulate gene expression, has never been described in human disorders of sex chromosome aneuploidies. We profiled circRNAs in Turner syndrome females… read more here.
Keywords: sex chromosome; klinefelter syndrome; turner; chromosome aneuploidies ... See more keywords