{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T03:28:57Z","timestamp":1785554937629,"version":"3.56.0"},"reference-count":19,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Turner syndrome (TS) is a genetic disorder caused by the complete or partial absence of one of the X chromosomes. Its clinical features include short stature, gonadal dysgenesis, primary amenorrhea, and infertility. The condition presents significant phenotypic variability, especially in cases involving chromosomal mosaicism and structural abnormalities. Case Presentation: A 21-year-old female patient from Tapau\u00e1, Amazonas, Brazil, was evaluated due to irregular bleeding followed by secondary amenorrhea. Cytogenetic analysis of peripheral blood lymphocytes was performed using conventional G-banding, followed by fluorescence in situ hybridization (FISH) for molecular characterization. Cytogenetic analysis revealed 2 cell lines: one with monosomy X (45,X) and another with 46 chromosomes including a ring X chromosome. The final karyotype was mos45,X[170]\/46,X,r(X)(p11.22q13.23)[30]. The presence of a ring X chromosome was confirmed by FISH. Conclusion: This case illustrates the relevance of combining classical and molecular cytogenetic techniques to identify structural X chromosome abnormalities. Such analysis is essential for accurate diagnosis, understanding genotype-phenotype correlations, and guiding clinical management and genetic counseling in patients with TS.<\/jats:p>","DOI":"10.1159\/000551346","type":"journal-article","created":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T17:07:24Z","timestamp":1772557644000},"page":"1-6","source":"Crossref","is-referenced-by-count":1,"title":["Cytomolecular Analysis of a Ring X Chromosome in a Patient with Turner Syndrome: A Case Report"],"prefix":"10.1159","author":[{"given":"Evellyn Karine","family":"Cruz da Silva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruan Barboza","family":"Rocha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma","family":"de Sousa Passos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6315-3352","authenticated-orcid":false,"given":"Edivaldo Herculano","family":"Correa de Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1672-3054","authenticated-orcid":false,"given":"Thomas","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria Barroso","family":"Serr\u00e3o das Neves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise C\u00f4rrea","family":"Benzaquem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4801-698X","authenticated-orcid":false,"given":"Cleiton","family":"Fantin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,3,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1510657"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209476"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-0978-9"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1017\/s0003480097006507"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32521"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.013"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-12-171"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430617"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1017\/S0003480000008174"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-15395"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1017\/S0003480000008162"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/omcr\/omab111"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159\/000184154"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000090907"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2018.00027"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-016-0761-x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1590\/s0100-72032008001000006"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2007.11.004"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2006.04.005"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000551346","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T16:00:57Z","timestamp":1778083257000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000551346"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,3]]},"references-count":19,"URL":"https:\/\/doi.org\/10.1159\/000551346","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.31451527","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,3]]}}}