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Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank

2025-02-02

Abstract excerpt

<h4>ABSTRACT</h4> Sex chromosome trisomies (SCT) are the most common whole chromosome aneuploidy in humans. Yet, our understanding of the prevalence and associated health outcomes is largely driven by observational studies of clinically diagnosed cases, resulting in a disproportionate focus on 47,XXY and associated hypogonadism. We analyzed microarray intensity data of sex chromosomes for 1.5 million individuals...

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Literature Corpus work
22d099c5-9c3f-59e4-812b-b44eb928b011
DOI
10.1101/2025.01.31.25321488
Open publication

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Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK BiobankDOI 10.1101/2025.01.31.25321488
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