title: Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country.
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.
authors.affiliation: Department of Pathology, Clinical Center of the University of Sarajevo. amina.kurtovic@gmail.com.
authors.forename: Amina
authors.initials: A
authors.lastname: Kurtovic-Kozaric
authors.forename: Lejla
authors.initials: L
authors.lastname: Mehinovic
authors.forename: Meliha
authors.initials: M
authors.lastname: Stomornjak-Vukadin
authors.forename: Ilvana
authors.initials: I
authors.lastname: Kurtovic-Basic
authors.forename: Feriha
authors.initials: F
authors.lastname: Catibusic
authors.forename: Mirza
authors.initials: M
authors.lastname: Kozaric
authors.forename: Senka
authors.initials: S
authors.lastname: Mesihovic-Dinarevic
authors.forename: Mensuda
authors.initials: M
authors.lastname: Hasanhodzic
authors.forename: Darinka
authors.initials: D
authors.lastname: Glamuzina
mesh_terms: D017522:Bosnia and Herzegovina / Q000453:epidemiology; D002648:Child; D002872:Chromosome Deletion; D003906:Developing Countries; D004062:DiGeorge Syndrome / Q000235:genetics; D017353:Gene Deletion; D030342:Genetic Diseases, Inborn / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D015994:Incidence; D013577:Syndrome; D018980:Williams Syndrome / Q000235:genetics