Cytogenetics findings at Turner Syndrome and their correlation with clinical findings

Authors

  • Amra Ćatović Center for Human Genetics, Medical Faculty, University of Sarajevo
  • Sulejman Kendić Private Clinic “MEDICA” Bihać, Gynecology ambulance

DOI:

https://doi.org/10.17305/bjbms.2005.3271

Keywords:

Turner Syndrome, cytogenetics findings, clinical findings

Abstract

Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002) correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogeneticsexaminations in 30(63,8%) examinees and excluded in 17 (36,2%) examinees. The most frequent karyotype is monosomy of X chromosome (45,X) found at 63,3%, than isochromosome of Xq (46,XisoXq) found at 16,7%, mosaic form (46,XX/45,X) and deletion of Xp (46,XdelXp) both at 6,7%, than deletion of Xq (46,XdelXq) and ring of Xp (46,XX/46,XringXp) both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

Cytogenetics findings at Turner Syndrome and their correlation with clinical findings

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Published

20-08-2005

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Section

Translational and Clinical Research

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How to Cite

1.
Cytogenetics findings at Turner Syndrome and their correlation with clinical findings. Biomol Biomed [Internet]. 2005 Aug. 20 [cited 2024 Mar. 29];5(3):54-8. Available from: https://www.bjbms.org/ojs/index.php/bjbms/article/view/3271