Article
Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
American journal of medical genetics. Part A - 1 Dec 2024
Klamut Natalia, Bothwell Samantha, Carl Alexandra E, Bamba Vaneeta, Law Jennifer R, Brickman Wendy J, Klein Karen O, Kanakatti Shankar Roopa, Pinnaro Catherina T, Fechner Patricia Y, Prakash Siddharth K, Gutmark-Little Iris, Howell Susan, Tartaglia Nicole, Good Marybel, Ranallo Kelly C, Davis Shanlee M
Abstract excerpt
Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little is known about the phenotype of individuals with TS mosaic with trisomy X (45,X/47,XXX or 45,X/46,XX/47,XXX) (~3% of TS). We compared the diagnostic, perinatal, medical, and neurodevelopmental comorbidities of mosaic 45,X/47,XXX (n = 35, 9.4%) with nonmosaic 45,X (n = 142) and mosaic 45,X/46,XX (n = 66). Females with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.