Ontology highlight
ABSTRACT:
SUBMITTER: Li L
PROVIDER: S-EPMC4802981 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Molecular syndromology 20160202 6
Williams-Beuren syndrome (WBS) manifests as supravalvular aortic stenosis, intellectual disability, developmental delay and characteristic facial features. The common WBS deletion region ranges from 1.55 to 1.84 Mb and primarily contains the ELN gene. We analyzed 10 patients diagnosed with 7q11.23 microdeletion syndrome by chromosomal microarray analysis. The clinical features of these patients varied from classic WBS to normal phenotype. All 10 patients exhibited different sizes and breakpoints ...[more]