Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases
Articles > Article · 2012
Authors: Etem Akbas, Zuhal Mert Altintas, Sevim Karakas Celik, Umut Kutlu Dilek, Ali Delibas, Samim ÖZEN, Badel Asian Mamur, Gulen Aslan Uyaniker
LABMEDICINE, Journal Indexed in SCI Expanded, International, 2012, vol 43, pp 197-204
Summary
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.