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.
Highlights
Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases (Mb)
During the seven-year period 24 pediatric patient samples were received by the Laboratory of human genetics at the Department of Clinical Pathology, Cytology, and Human Genetics, Clinical Center of the University of Sarajevo, referred to fluorescence in situ hybridization (FISH) testing to confirm the diagnosis of a suspected microdeletion syndrome
One sample was positive for Williams syndrome and one for Wolf-Hirschhorn syndrome (Table 1)
Summary
Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases (Mb). Most microdeletion syndromes result in a loss of a chromosomal segment leading to the haploinsufficiency of a few critical genes or in some cases a single gene [1]. Microdeletions are mostly spontaneous and occur in approximately 5% of patients with unexplained mental retardation [2,3]. They are frequently associated with multiple congenital anomalies and developmental delay [4,5]. The most common microdeletion syndromes are DiGeorge syndrome (22q11.2), Prader-Willi syndrome, Angelman syndrome (15q11-13), Williams syndrome (7q11.23), and Wolf-Hirschhorn syndrome (4p16.3). The most common abnormalities include heart defects, hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, cleft palate, learning disabilities, dysmorphia, and microcephaly [7,8,9,10,11,12]
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