Kurtovic-Kozaric Amina, Mehinovic Lejla, Stomornjak-Vukadin Meliha, Kurtovic-Basic Ilvana, Catibusic Feriha, Kozaric Mirza, Mesihovic-Dinarevic Senka, Hasanhodzic Mensuda, Glamuzina Darinka
Department of Pathology, Clinical Center of the University of Sarajevo.
Bosn J Basic Med Sci. 2016 Mar 3;16(2):121-5. doi: 10.17305/bjbms.2016.994.
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.
微缺失综合征是由小于5兆碱基的染色体缺失引起的，可通过荧光原位杂交（FISH）检测到。我们评估了2008年6月1日至2015年6月1日期间在波斯尼亚和黑塞哥维那联邦最常检测到的微缺失，包括迪乔治综合征、普拉德-威利/安吉尔曼综合征、沃尔夫-赫希霍恩综合征和威廉姆斯综合征。在分析的7年期间，我们报告了4例迪乔治综合征患者、4例普拉德-威利/安吉尔曼综合征患者、4例沃尔夫-赫希霍恩综合征患者和3例威廉姆斯综合征患者。根据每种综合征的FISH阳性结果，计算了波斯尼亚和黑塞哥维那联邦的发病率。这些是波斯尼亚和黑塞哥维那联邦首次报告的微缺失综合征发病率。
