Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

摘要

The Williams-Beuren critical region (WBCR), located in 7qll23, is commonly deleted in Williams-Beuren syndrome (WBS), a microdeletion syndrome However, only 12 patients with a duplication of the WBCR have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. In addition, this duplication has been found to be inherited from healthy parents in three cases.