{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T00:55:38Z","timestamp":1784768138819,"version":"3.55.0"},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"27","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p> Abstract: <\/jats:p><jats:p> Introduction: Early diagnosis of sex chromosome abnormalities is important because of prevention, family planning and optimal therapy. Aim: Investigation of the relationship between phenotype, age at time of diagnosis and therapeutic options in sex chromosome aberrations. Method: Processing data of 51 children with sex chromosome abnormalities who were diagnosed between 2009 and 2014 and examined at the 2nd. Department of Pediatrics, Semmelweis University, by the methods of anamnesis, family tree analysis, physical examination, karyotype analysis and fluorescent in situ hybridisation. Results: 41% of the patients were diagnosed with Turner-, 18% with Klinefelter-, 10% with double-Y-, 6% with triple- and poly-X-syndrome, 19% with other gonadal dysgenesis and 6% with other abnormality. The average age at diagnosis: Turner- and Klinefelter-syndrome 10 years, other gonadal dysgenesis 9 years, 46,XX,t(X;10) 17 years, other abnormalities 1\u20132 years. Conclusions: Numerical aberrations of the sex chromosomes are more common than structural aberrations. Klinefelter-, triple- and poly-X-syndromes are underdiagnosed in childhood. Early diagnosis of Turner-syndrome and other gonadal dysgenesis is necessary to optimise therapy and prevent associated diseases. This can be achieved by modern prenatal diagnostic methods and targeted activity of family pediatricians. Orv Hetil. 2018; 159(27): 1121\u20131128. <\/jats:p>","DOI":"10.1556\/650.2018.31081","type":"journal-article","created":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T03:07:12Z","timestamp":1530414432000},"page":"1121-1128","source":"Crossref","is-referenced-by-count":1,"title":["Nemi kromosz\u00f3ma-rendelleness\u00e9gek vizsg\u00e1lata                     gyermekkorban"],"prefix":"10.1556","volume":"159","author":[{"given":"\u00c9va","family":"Pinti","sequence":"first","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u0171zolt\u00f3 u. 7\u20139., 1094"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lengyel","sequence":"additional","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u0171zolt\u00f3 u. 7\u20139., 1094"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1gnes","family":"Sallai","sequence":"additional","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u0171zolt\u00f3 u. 7\u20139., 1094"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gy\u00f6rgy","family":"Fekete","sequence":"additional","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u0171zolt\u00f3 u. 7\u20139., 1094"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ir\u00e9n","family":"Haltrich","sequence":"additional","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u0171zolt\u00f3 u. 7\u20139., 1094"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","container-title":["Orvosi Hetilap"],"original-title":[],"language":"hu","link":[{"URL":"https:\/\/www.akademiai.com\/doi\/pdf\/10.1556\/650.2018.31081","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T12:27:03Z","timestamp":1550579223000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.akademiai.com\/doi\/10.1556\/650.2018.31081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":0,"journal-issue":{"issue":"27","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1556\/650.2018.31081"],"URL":"https:\/\/doi.org\/10.1556\/650.2018.31081","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7]]}}}