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

Bosn J Basic Med Sci. 2016 Mar 3;16(2):121-5. doi: 10.17305/bjbms.2016.994.

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.

MeSH terms

  • Bosnia and Herzegovina / epidemiology
  • Child
  • Chromosome Deletion
  • Developing Countries
  • DiGeorge Syndrome / genetics
  • Gene Deletion*
  • Genetic Diseases, Inborn / epidemiology*
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Incidence
  • Syndrome
  • Williams Syndrome / genetics