Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases
E. Akbas, Zuhal Mert Altintas, Badel Asian Mamur, Umut Kutlu Dilek, Samim Ozen, Sevim Karakas Celik, Ali Delibas, Gulen Aslan Uyaniker
article (Uluslararası, Hakemli) | Yazar(lar): E. Akbas, Zuhal Mert Altintas, Badel Asian Mamur, Umut Kutlu Dilek, Samim Ozen, Sevim Karakas Celik, Ali Delibas, Gulen Aslan Uyaniker | Yıl: 2012 | Dergi/Kurum: LABMEDICINE | İndeks: WOS.SCI | DOI: 10.1309/lmezqxk85cdp4hyn | Anahtar Kelimeler: Turner Syndrome, isochromosom
Turner Syndrome occurs in one out of every 5000 live female births and the diagnosis is usually based on the clinical presentation. In the last 9 years, 17 of 1681 patients who underwent cytogenetic evaluation to investigate uncertain chromosomal anomaly had Turner syndrome. Ten of the patients were the 45,X (classic) type, 2 patients were 46,X,i(Xq), 1 patient was 46,X,der(X)del(X)(p22.1)del(X)(q26), and 4 were mosaic (2 were 45,X/46,XY and the other 2 were 45,X/47,XXX). Detailed clinical evaluations of these patients are presented.