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P303: Population prevalence of sex chromosome trisomy varies by genetic ancestry

Year: 2024
Type: article
Study design: Observational Study
Abstract: Based on population screening studies, the prevalence of an additional X (47,XXY and 47,XXX) or Y (47,XYY) chromosome is estimated to occur in 1 out of every 500 individuals. These sex chromosome trisomy (SCT) conditions arise from non-disjunction errors in parental meiosis or early embryonic mitosis that are presumed to be sporadic. Nearly all epidemiological research in SCT to date is limited to individuals of Western European descent. We aimed to determine the prevalence of SCT in a diverse US sample and assess whether the prevalence differed by genetic ancestry.
DOI: 10.1016/j.gimo.2024.101199
Authors: Shanlee Davis, Craig Teerlink, Julie Lynch, Meghana Pagadala, Bryan Gorman, Judith Ross, Richard Hauger
Institutions: University of Utah, VA Salt Lake City Healthcare System, University of California San Diego, VA Boston Healthcare System, Thomas Jefferson University, VA San Diego Healthcare System
Language: English
Subfield: Genetics
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392588971
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Related to: 10