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

Amina Kurtovic-Kozaric; Lejla Mehinovic; Meliha Stomornjak-Vukadin; Ilvana Kurtovic-Basic; Feriha Catibusic; Mirza Kozaric; Senka Mesihovic-Dinarevic; Mensuda Hasanhodzic; Darinka Glamuzina

doi:10.17305/bjbms.2016.994

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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