Approximately 90-95% of Williams-Beuren syndrome is due to microdeletions within the 7q11.23 region, typically including the ELN gene. It is an autosomal dominant genetic disorder, with phenotypic variability, which includes multiple peripheral pulmonary aortic stenoses, distinctive “elfin” facial appearance, mental retardation, characteristic dental dysmorphia, infantile hypercalcaemia and other. Although patients score low in IQ tests, they often exhibit remarkable musical and verbal abilities and have a cheerful and adorable personality. Most common behavioral problems are poor concentration, attention seeking behavior and general restlessness. Incidence of this syndrome is estimated to be ~1/10.000 births.
We perform an MLPA technique, employing multiple probes recognizing specific DNA sequences in the region of interest, enabling us to detect deletions of specific sequences known to be responsible for >95% of all cases.
This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.