Article

Research Priorities of Individuals and Families with Sex Chromosome Aneuploidies

2024-08-16

Abstract excerpt

<h4>ABSTRACT</h4> Sex chromosome aneuploidies (SCAs) are chromosomal variations that result from an atypical number of X and/or Y chromosomes. Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47,XXY), Turner syndrome (45,X and variants), Double Y syndrome (47,XYY), Trisomy X (47,XXX), and rarer tetrasomies and pentasomies. Individuals with SCAs experience a wide variety o...

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Literature Corpus work: 5ff75314-3df7-58aa-8274-27f910588c7e
DOI: 10.1101/2024.08.15.24312069

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