Williams-Beuren syndrome

Abstract

The article presents basic information about five patients affected with the Williams-Beuren syndrome (WBS). The syndrome is caused by microdeletion of the chromosome 7q11.23, which was confirmed molecular cytogenetic analysis (FISH).

Phenotypical variability of WBS seems to be less pronounced than in other microdeletion syndromes, especially CATCH 22. The most important criteria for FISH analysis is a typical face of the patient, an inborn cardiac defect and a mental retardation.

In three patients with microdeletion irides stellatae (stellate pattern) were present.

Keywords

• Chromosome 7
• FISH method
• Hypercalcemia
• Inborn cardiac defects
• Iris stellatae
• Microdeletion syndromes
• Supravalvular aortic stenosis
• Williams syndrome
• Williams-Beuren syndrome