Article Title: Detection and characterization of male sex chromosome abnormalities in the UK Biobank study
Authors: Zhao, Gardner, Tuke, Zhang, Pietzner, Koprulu, Jia, Ruth, Wood, Beaumont, Tyrrell, Jones, Lango Allen, Day, Langenberg, Frayling, Weedon, Perry, Ong, and Murray
Date of Publication: May 16, 2022
“Purpose: The study aimed to systematically ascertain male sex chromosome abnormalities, 47,XXY (Klinefelter syndrome [KS]) and 47,XYY, and characterize their risks of adverse health outcomes.”
“Conclusion: KS and 47,XYY were mostly unrecognized but conferred substantially higher risks for metabolic, vascular, and respiratory diseases, which were only partially explained by higher levels of body mass index, deprivation, and smoking.”