Genome Sequencing Diagnoses Atypical 7q11.23 Region Deletion in an Adult Patient

Background

• Deletions in the 1.55–1.83 Mb critical gene region at 7q11.23 are associated with Williams syndrome (WS), a rare neurodevelopmental disorder that is characterized by mild to moderate developmental delay/intellectual disability, supravalvular aortic stenosis (SVAS) and other cardiovascular anomalies, characteristic facial features, a unique cognitive–behavioral profile, and connective tissue differences.
• There can be wide clinical variability in the phenotype associated with WS, especially in cases with
  atypical deletions.
• The WS deletion usually affects 25-27 contiguous genes, some of which are associated with specific
  disease features, such as the ELN gene and SVAS.