Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
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چکیده
منابع مشابه
Williams-Beuren syndrome.
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...
متن کاملAutistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype
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...
متن کاملConstitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, i...
متن کاملCeliac disease in Williams-Beuren syndrome.
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, ...
متن کاملSaccade adaptation in Williams-Beuren Syndrome.
PURPOSE To investigate the capacity for rapid saccade adaptation in Williams-Beuren Syndrome (WBS), a genetic neurodevelopmental disorder, in which it has been observed that saccadic accuracy is severely reduced. METHODS Saccade amplitude modification was elicited by backward steps (30% of target eccentricity) during the primary saccade in a classic saccade-adaptation paradigm. RESULTS Pati...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1996
ISSN: 1460-2083
DOI: 10.1093/hmg/5.12.1893