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

Bosnian Journal of Basic Medical Sciences

Ilvana Kurtovic-Basic¹  Senka Mesihovic-Dinarevic¹  Lejla Mehinovic¹  Feriha Catibusic¹  Meliha Stomornjak-Vukadin¹  Mirza Kozaric¹  Amina Kurtovic-Kozaric²  Mensuda Hasanhodzic³  Darinka Glamuzina⁴ 

[1] Clinical Center of the University of Sarajevo;Department of Pathology, Clinical Center of the University of Sarajevo;University Clinical Center Tuzla;University Clinical Hospital Mostar;

关键词: Microdeletion syndrome;    DiGeorge;    Williams;    Prader-Willi;    Angelman;    Wolf-Hirschhorn;   

DOI  :  10.17305/bjbms.2016.994

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown