Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution

Abstract Individuals with Turner syndrome (TS) phenotypes may exhibit short stature, ovarian dysfunction, and neurocognitive disorders. Their genomes can include ring chromosomes formed from the X chromosome (RCX). Here, we present cytogenomic and clinical findings from seventeen individuals with TS...

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Main Authors: Anita Madison, Carolyn Applegate, Victoria Stinnett, Diego Marrero Miranda, Chantal Cross, Kamaria Cayton Vaught, Ying S. Zou, Jaclyn B. Murry
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-89843-y
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