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 supravalvular aortic stenosis (SVAS), dysmorphic facies and mental retardation. Beuren presented a similar syndrome with the additional features of peripheral pulmonary stenosis (PPS), dental anomalies and friendly personality. Because of similarity of the facial features and congenital heart defect, it was referred to as Williams-Beuren syndrome. More than 98% of patients with clinical diagnosis of WBS, have a deletion at chromosome 7q11.23, composed of 28 coding genes, including elastin gene (3). Mutations within the elastin gene have been detected by FISH, which is the standard diagnostic test for WBS. In recent year array-based comparative genomic hybridization (array-CGH) is used for the molecular diagnosis of chromosomal disorders. Array-CGH is available to detect micodeletion/microduplication syndromes and unbalanced chromosomal rearrangements, which is becoming an essential clinical diagnostic tool and is gradually replacing cytogenetic methods. But this technology is not able to indentify balanced chromosomal imbalances such as inversions and translocations. Here we present an 8 month boy with WBS confirmed by array-CGH.