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

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

LABMEDICINE, vol.43, no.5, pp.197-204, 2012 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 5
  • Publication Date: 2012
  • Doi Number: 10.1309/lmezqxk85cdp4hyn
  • Title of Journal : LABMEDICINE
  • Page Numbers: pp.197-204
  • Keywords: Turner Syndrome, isochromosome X, X deletion, mosaicism, cytogenetics, MOSAICISM


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.