Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Akbas E., Altintas Z. M. , Celik S. K. , Dilek U. K. , Delibas A., Ozen S., ...Daha Fazla

LABMEDICINE, cilt.43, sa.5, ss.197-204, 2012 (SCI İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 43 Konu: 5
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1309/lmezqxk85cdp4hyn
  • Dergi Adı: LABMEDICINE
  • Sayfa Sayıları: ss.197-204


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.