Cytogenetic and clinic evaluation of two cases that have 45,X/46,X,i(Xq) and 46,X,i(Xq) karyotype
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Etem Akbaş 1 * , Faik Gürkan Yazıcı, Hüseyin Durukan, Harika Topal, Nazan Eras Erdoğan
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1 Mersin University Medical Faculty Department of Medical Biology and Genetics, Mersin, Turkey* Corresponding Author

Abstract

In this study, cytogenetic and clinic findings of 46,X,i(Xq) and 45,X/46,X,i(Xq) which are the rare types of Turner syndrome are evaluated. Two patients were directed to the Cytogenetic Laboratory from Gynecology Clinic with chromosomal anomaly indication. Their peripheric blood samples are analyzed karyotypically using Giemsa-Tripsin Bantama method.
Case 1. The patient is 17 years old, has short height, a low-posterior hairline, short neck, small and wide apart breasts, normal external genitals and underdeveloped internal genitals. Her karyotype was 45,X/46,X,i(Xq).
Case 2. The patient is 19 years old, has primer amenore, short height, a low-posterior hairline, wide apart and underdeveloped breasts, normal external genitals, underdeveloped uterus, obscure ovarium. Her karyotype was determined to be 46,X,i(Xq). Although symptoms progress slightly weaker, our 45,X/46,X,i(Xq) and 46,X,i(Xq) cases, which are rare types of Turner Syndrome, are generally consistent with phenotypic findings of Turner syndrome.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

J Clin Exp Invest, Volume 5, Issue 3, September 2014, 444-448

https://doi.org/10.5799/ahinjs.01.2014.03.0436

Publication date: 09 Sep 2014

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