Williams-Beuren Syndrome Region Probe

Williams-Beuren Probe: Red Fluorophore
7 (D7Z1) a-satellite Probe: Green Fluorophore

Williams-Beuren Syndrome (WBS), caused by a microdeletion of 7q11.23, results in connective tissue problems, supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation.

The 1.6Mb WBS deletion region contains the GTF2l/NCF1 and GTF2lP1/NCF1 P1 loci, with unequal intrachromosomal exchanges between them thought to cause the deletions.

The Williams-Beuren deletion directly labelled probe mixture consists three non-overlapping clones, which cover most of the 1.6Mb deletion region (red fluorophore with specificity to Texas Red spectrum); and a 7 centromere alpha-satellite (D7Z1) (green fluorophore with specificity to FITC spectrum) control probe.