Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission
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DOI: 10.1155/2020/4976204
Abstract: Translocations involving X and Y chromosomes rarely occur in humans and may affect reproductive function. We investigated an Xp:Yq unbalanced translocation with pseudoautosomal region (PAR) aberrations in a natural two-generation transmission. We report the case… read more here.
Keywords: pseudoautosomal region; natural two; translocation; translocation pseudoautosomal ... 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