Chromosome abnormalities and Williams-Beuren syndrome.
نویسندگان
چکیده
Telvi et al' recently reported on a 27 month old girl with an unbalanced de novo translocation, t(X;21)(q28;ql 1), and diagnosed this child as having an incomplete form of Williams-Beuren syndrome (WBS). This was based on some symptoms specific to WBS, such as craniofacial dysmorphism, delayed psychomotor development, short stature, horseshoe kidneys, and a positive WBS score of + 4.09.2 We do not agree with this diagnosis and would like to make some
منابع مشابه
Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH).
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...
متن کاملWilliams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
Fluorescence in situ hybridisation (FISH) and conventional chromosome analysis were performed on a series of 52 patients with classical Williams-Beuren syndrome (WBS), suspected WBS, or supravalvular aortic stenosis (SVAS). In the classical WBS group, 22/23 (96%) had a submicroscopic deletion of the elastin locus on chromosome 7, but the remaining patient had a unique interstitial deletion of c...
متن کاملPrevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center
OBJECTIVE This study assessed the prevalence of scoliosis and the patterns of scoliotic curves in patients with Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a chromosome 7q11.23 deletion in a region containing 28 genes, with the gene encoding elastin situated approximately at the midpoint of the deletion. Mutation of the elastin gene leads to phenotypic changes in patients, i...
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The Williams-Beuren syndrome is a rare genetic disease. It combines classically specific facial dysmorphism, cardiovascular malformations and specific neuropsychological profile. We report three cases of Williams-Beuren syndrome in children with particular emphasis on vascular abnormalities observed on CT angiography and MR angiography.
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Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definit...
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Williams-Beuren syndrome is a multysistem genetic disorder caused by the 1.6Mb hemizygous deletion involving the elastin gene in the region q11.23 of chromosome 7. The phenotype of Williams-Beuren syndrome is extremelly variable but the most common findings include cardiovascular disease, distinctive facies, mental retardation, a specific congitive profile, endocrine abnormalities, growth retar...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 30 10 شماره
صفحات -
تاریخ انتشار 1993