{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:40:54Z","timestamp":1787164854707,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"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":["Congenital Anomalies"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies find it difficult to predict phenotypes from karyotypes due to the presence of mosaicism. The purpose of this study is to clarify the relationship between karyotype and phenotype in Turner syndrome with non\u2010mosaic X chromosome structural rearrangements. A systematic literature search was conducted using Medline and Embase classics plus Embase between 1947 and September 2023. A total of 487 Turner women with non\u2010mosaic X chromosome structural rearrangements were included from the 69 studies. The prevalence of short stature was 72.4% in Turner syndrome with non\u2010mosaic X chromosome structural rearrangements, 80.1% in the short arm deletion group (del (Xp)), 75% in the del(X)(p22.3) group, 65.8% in the del(X)(p21) and del(X)(p22) group, and 37.5% (20%\u201366.7%) in the long arm deletion group (del(Xq)). The prevalence of ovarian dysfunction was 78.8% in Turner syndrome with non\u2010mosaic X chromosome structural rearrangements, 72.5% in the del (Xp) group, 27.6% in the del (X)(p22.3) group, 33.3% in the del (X)(p21) and del(X)(p22) group, and 94.6% in the del (Xq) group. The recognition of X chromosome breakpoints is useful in the management of Turner syndrome complications, since some phenotypes are unique depending on the deletion region. Ovarian dysfunction is significantly related to karyotype, so the identification of karyotypes in Turner syndrome is important for managing ovarian dysfunction and predicting future fertility.<\/jats:p>","DOI":"10.1111\/cga.70002","type":"journal-article","created":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T19:28:53Z","timestamp":1735759733000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Karyotype and phenotype association in Turner syndrome with non\u2010mosaic X chromosome structural rearrangements: Systematic review"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7269-1401","authenticated-orcid":false,"given":"Miki","family":"Tanoshima","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Yokohama City University Medical Center  Yokohama Japan"},{"name":"Perinatal Center for Maternity and Neonate Yokohama City University Medical Center  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reo","family":"Tanoshima","sequence":"additional","affiliation":[{"name":"Department of Health Data Science, Graduate School of Data Science Yokohama City University  Yokohama Japan"},{"name":"YCU Center for Novel and Exploratory Clinical Trials Yokohama City University Hospital  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Takase","sequence":"additional","affiliation":[{"name":"YCU Center for Novel and Exploratory Clinical Trials Yokohama City University Hospital  Yokohama Japan"},{"name":"Department of Radiology and Neurology Massachusetts General Hospital  Boston Massachusetts USA"},{"name":"Department of Radiology and Neurology Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Kitasato University School of Medicine  Sagamihara Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeru","family":"Aoki","sequence":"additional","affiliation":[{"name":"Perinatal Center for Maternity and Neonate Yokohama City University Medical Center  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideya","family":"Sakakibara","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Yokohama City University Medical Center  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etsuko","family":"Miyagi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Yokohama City University School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejendo\/lvae050"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0430"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02423-5"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-019-0224-4"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"e_1_2_10_7_1","unstructured":"OMIM *312865 SHORT STATURE HOMEOBOX; SHOX. 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