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Article

Mosaic Turner syndrome shows reduced penetrance in an adult population study.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019

Tuke Marcus A, Ruth Katherine S, Wood Andrew R, Beaumont Robin N, Tyrrell Jessica, Jones Samuel E, Yaghootkar Hanieh, Turner Claire L S, Donohoe Mollie E, Brooke Antonia M, Collinson Morag N, Freathy Rachel M, Weedon Michael N, Frayling Timothy M, Murray Anna

Abstract excerpt

PURPOSE: Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, ascertainment of cases in the clinic may mean that the penetrance has been overestimated. METHODS: We characterized the prevalence and phenotypic consequences of X chromosome aneuploidy in a population of 244,848 women over 40 years of age from UK Biobank, using single-nucleotide polymorphism...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 30181606
DOI: 10.1038/s41436-018-0271-6
PMCID: PMC6752315

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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