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

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...

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Bibliographic Details
Published in:Laboratory medicine 2012-08, Vol.43 (5), p.197-204
Main Authors: Akbas, Etem, Altintas, Zuhal Mert, Celik, Sevim Karakas, Dilek, Umut Kutlu, Delibas, Ali, Ozen, Samim, Mamur, Badel Aslan, Uyaniker, Gülen Aslan
Format: Article
Language:English
Subjects:
Abdomen
Child health
Chromosomes
Cytogenetics
Deoxyribonucleic acid
DNA
Genetic disorders
Medical research
Pediatrics
Thermal cycling
Turner syndrome
Ultrasonic imaging
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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. Keywords: Turner Syndrome, isochromosome X, X deletion, mosaicism, cytogenetics
ISSN:0007-5027
1943-7730
DOI:10.1309/LMEZQXK85CDP4HYN