{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T02:15:41Z","timestamp":1782872141749,"version":"3.54.5"},"reference-count":29,"publisher":"Wiley","license":[{"start":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T00:00:00Z","timestamp":1752192000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Turner syndrome (TS) is a sex chromosome disorder affecting phenotypic females who have one intact X chromosome and a completely or partially missing second sex chromosome. It was first described approximately a century ago by Seresevskij, Ullrich and Turner. However, the cytogenetic basis of TS was only reported by Ford in 1959 following Tjio and Levan's optimisation of chromosome visualisation. TS karyotypes include classic monosomy X (40%\u201350%); monosomy X mosaicism (3%\u201325%); isochromosome X (10%\u201318%); ring X (10%\u201316%); mosaicism for monosomy X and a normal or structurally abnormal Y chromosome (6%\u201312%); deletion Xp (&lt;\u20095%) and unbalanced X\u2010autosome translocation (&lt;\u20092%). While parental age does not affect the complete loss of one X chromosome, the paternal X chromosome is absent in three\u2010quarters of patients with TS. Clinically, detecting the parental origin of the remaining X chromosome is not currently useful in routine TS care. Recurrence risk is low for phenotypically normal parents with a child diagnosed with TS. Pregnancy loss is the outcome for the majority (~99%) of TS cases; however, prenatal ultrasound findings for foetuses with TS may include abnormalities like cystic hygroma and hydrops. Postnatal phenotype for patients with TS includes short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, cardiac defects, endocrine, metabolic and autoimmune disorders. This review aims to outline clinical indications for testing, describe test methodologies, provide genetic test result examples that highlight complex TS karyotype diagnoses, summarise clinical management options and discuss the phenomenon of \u2018normal\u2019 sex chromosome loss with advancing age.<\/jats:p>","DOI":"10.1111\/jpc.70132","type":"journal-article","created":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T09:50:01Z","timestamp":1752227401000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Turner Syndrome"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8442-1723","authenticated-orcid":false,"given":"Ken L.","family":"Wan","sequence":"first","affiliation":[{"name":"Department of Diagnostic Genomics, Monash Health Pathology Monash Medical Centre Clayton  Clayton Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L.","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics, Monash Health Pathology Monash Medical Centre Clayton  Clayton Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raj","family":"Krishnaswamy","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics, Monash Health Pathology Monash Medical Centre Clayton  Clayton Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9921-2318","authenticated-orcid":false,"given":"Peter A.","family":"Kaub","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics, Monash Health Pathology Monash Medical Centre Clayton  Clayton Victoria Australia"},{"name":"Faculty of Health and Medical Sciences, Adelaide Medical School The University of Adelaide  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,11]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejendo\/lvae050"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574\u2010019\u20100224\u20104"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010024\u201003337\u20100"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4419-1688-4"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199329007.001.0001"},{"issue":"4","key":"e_1_2_13_7_1","first-page":"297","article-title":"The Parental Origin of the Missing or Additional Chromosome in 45,X and 47,XXX Females","volume":"26","author":"Hassold T.","year":"1990","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10506"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469\u20101809.1997.6160471.x"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.1994.tb04185.x"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0028\u20103932(99)00118\u20109"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148\u2010018\u20100477\u20100"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201017\u20100430"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181c684b2"},{"issue":"1","key":"e_1_2_13_15_1","first-page":"94","article-title":"Exclusion of Chromosomal Mosaicism: Tables of 90%, 95% and 99% Confidence Limits and Comments on Use","volume":"29","author":"Hook E. 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