Williams-Beuren Syndrome: A Case Confirmed by Array-CGH Method
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چکیده
منابع مشابه
Williams-Beuren Syndrome: A Case Confirmed by Array-CGH Method
Williams-Beuren Syndrome (WBS) is a rare genetic disorder. The first cases of WBS were described by Williams et al. in 1961 and Beuren et al. in 1962 independently (1, 2). Williams reported on a group of children with supraval-vular aortic stenosis (SVAS), dysmorphic facies and mental retardation. Beuren presented a similar syndrome with the additional features of peripheral pulmonary stenosis ...
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Velo-cardio-facial syndrome (VCFS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it the second most prevalent genetic syndrome after Down syndrome and the most common genetic syndrome associated with cleft palate. Most of the 22q11.2 deletion cases are new occurrences or sporadic; however, in about 10 % of families, t...
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Copyright © 2010 Massachusetts Medical Society. Williams–Beuren syndrome (also known as Williams’ syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multi system disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes. Exactly how gene loss leads to the characteristic ph...
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BACKGROUND Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expressio...
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Celiac disease was previously reported to be frequent among individuals with Williams-Beuren syndrome; however, this suggestion was not investigated further. The present study was conducted to estimate the prevalence of celiac disease in a group of Turkish individuals with Williams-Beuren syndrome (n=33, age range: 1-24 years) by using anti-tissue transglutaminase immunoglobulin (Ig)A and IgG, ...
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ژورنال
عنوان ژورنال: Iranian Journal of Pediatrics
سال: 2015
ISSN: 2008-2142,2008-2150
DOI: 10.5812/ijp.247