Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country

Authors

  • Amina Kurtovic-Kozaric Department of Pathology, Clinical Center of the University of Sarajevo
  • Lejla Mehinovic Clinical Center of the University of Sarajevo
  • Meliha Stomornjak-Vukadin Clinical Center of the University of Sarajevo
  • Ilvana Kurtovic-Basic Clinical Center of the University of Sarajevo
  • Feriha Catibusic Clinical Center of the University of Sarajevo
  • Mirza Kozaric Clinical Center of the University of Sarajevo
  • Senka Mesihovic-Dinarevic Clinical Center of the University of Sarajevo
  • Mensuda Hasanhodzic University Clinical Center Tuzla
  • Darinka Glamuzina University Clinical Hospital Mostar

DOI:

https://doi.org/10.17305/bjbms.2016.994

Keywords:

Microdeletion syndrome, DiGeorge, Williams, Prader-Willi, Angelman, Wolf-Hirschhorn, Fluorescent in situ hybridization

Abstract

Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report 4 patients with DiGeorge syndromes, 4 patients with Prader-Willi/Angelman, 4 patients with Wolf-Hirschhorn syndrome, and 3 patients with Williams syndrome in the analyzed 7 year period. Based on the positive FISH results for each syndrome, the incidence was calculated for the Federation of Bosnia and Herzegovina. These are the first reported frequencies of the microdeletion syndromes in the Federation of Bosnia and Herzegovina.

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Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country

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Published

03-03-2016

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1.
Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country. Biomol Biomed [Internet]. 2016 Mar. 3 [cited 2024 Jun. 25];16(2):121-5. Available from: https://www.bjbms.org/ojs/index.php/bjbms/article/view/994