{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:53:53Z","timestamp":1792194833566,"version":"4.4.0"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]\/45,X[8]. Classic Turner syndrome has a more severe phenotype than variant causes of Turner syndrome. We present a patient with 46,X,i(Xq) karyotype and compare the clinical and laboratory findings with the classic description of Turner syndrome. Our patient has normal social and psychomotor skills unlike previously reported cases in the literature. This case expands the phenotype\u2013genotype description of Turner syndrome, which makes it an important contribution to the literature.<\/jats:p>","DOI":"10.1055\/s-0039-3399496","type":"journal-article","created":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T18:40:35Z","timestamp":1573065635000},"page":"243-245","source":"Crossref","is-referenced-by-count":8,"title":["Turner Syndrome with Isochromosome Xq"],"prefix":"10.53391","volume":"09","author":[{"given":"G\u00fclbahar","family":"G\u00fczel Erdal","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbak\u0131r, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmut","family":"Balkan","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbak\u0131r, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2019,11,6]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-3399496.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:44Z","timestamp":1758138344000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-3399496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,6]]},"references-count":0,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2020,7,27]]},"published-print":{"date-parts":[[2020,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-3399496","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,6]]}}}