Defining the Deletion Size in Williams-Beuren Syndrome by Fluorescent In Situ Hybridization with Bacterial Artificial Chromosomes
نویسندگان
چکیده
Williams-Beuren syndrome (WBS, MIM No. 194050) is a contiguous gene deletion syndrome that was described independently by Williams et al. (1961) in patients with supravalvular aortic stenosis, growth retardation and an unusual facial appearance (Williams et al., 1961) and by Beuren et al. (1962) in patients having the same features as well as dental anomalies and friendly personality (Beuren et al., 1962).
منابع مشابه
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
INTRODUCTION Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered high...
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PURPOSE Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. METHODS The fluorescence in situ hybridization test using a LSI Williams syndrome regio...
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Williams syndrome (WMS) is a most compelling model of human cognition, of human genome organization, and of evolution. Due to a deletion in chromosome band 7q11.23, subjects have cardiovascular, connective tissue, and neurodevelopmental deficits. Given the striking peaks and valleys in neurocognition including deficits in visual-spatial and global processing, preserved language and face process...
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Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ hybridizati...
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تاریخ انتشار 2017