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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 (<jats:italic>n<\/jats:italic>\u2009=\u200935, 9.4%) with nonmosaic 45,X (<jats:italic>n<\/jats:italic>\u2009=\u2009142) and mosaic 45,X\/46,XX (<jats:italic>n<\/jats:italic>\u2009=\u200966). Females with 45,X\/47,XXX had fewer neonatal concerns and lower prevalence of several TS\u2010related diagnoses compared with 45,X; however the prevalence of neurodevelopmental and psychiatric diagnoses were not different. Compared to females with 45,X\/46,XX, the 45,X\/47,XXX group was significantly more likely to have structural renal anomalies (18% vs. 3%; <jats:italic>p<\/jats:italic>\u2009=\u20090.03). They were twice as likely to have congenital heart disease (32% vs. 15%, <jats:italic>p<\/jats:italic>\u2009=\u20090.08) and less likely to experience spontaneous menarche (46% vs. 75% of those over age 10, <jats:italic>p<\/jats:italic>\u2009=\u20090.06), although not statistically significant. Congenital anomalies, hypertension, and hearing loss were primarily attributable to a higher proportion of 45,X cells, while preserved ovarian function was most associated with a higher proportion of 46,XX cells. In this large TS cohort, 45,X\/47,XXX was more common than previously reported, individuals were phenotypically less affected than those with 45,X, but did have trends for several more TS\u2010related diagnoses than individuals with 45,X\/46,XX.<\/jats:p>","DOI":"10.1002\/ajmg.a.63819","type":"journal-article","created":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T09:10:27Z","timestamp":1721207427000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X\/47,<scp>XXX<\/scp>): Results from the <scp>InsighTS<\/scp> Registry"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9966-0160","authenticated-orcid":false,"given":"Natalia","family":"Klamut","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Colorado School of Medicine  Colorado Aurora USA"},{"name":"eXtraOrdinary Kids Turner Syndrome Clinic Children's Hospital of Colorado  Colorado Aurora USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Bothwell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado School of Medicine  Colorado Aurora USA"},{"name":"eXtraOrdinary Kids Turner Syndrome Clinic Children's Hospital of Colorado  Colorado Aurora USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1157-4554","authenticated-orcid":false,"given":"Alexandra E.","family":"Carl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado School of Medicine  Colorado Aurora USA"},{"name":"eXtraOrdinary Kids Turner Syndrome Clinic Children's Hospital of Colorado  Colorado Aurora USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaneeta","family":"Bamba","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Children's Hospital of Philadelphia Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer R.","family":"Law","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics University of North Carolina at Chapel Hill  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy J.","family":"Brickman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine, Turner Syndrome Program, Ann and Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen O.","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California and Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9653-8865","authenticated-orcid":false,"given":"Roopa","family":"Kanakatti Shankar","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Children's National Hospital The George Washington University School of Medicine  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6450-0918","authenticated-orcid":false,"given":"Catherina T.","family":"Pinnaro","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes, Stead Family Department of Pediatrics University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia Y.","family":"Fechner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington and Division of Endocrinology, Seattle Children's Hospital  Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth K.","family":"Prakash","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0135-4516","authenticated-orcid":false,"given":"Iris","family":"Gutmark\u2010Little","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio 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