Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
J. Clin. Invest. Barbara R. Pober, et al. 118:1606 doi:10.1172/JCI35309 [
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Figure 2The WBS critical region. The chromosome 7q11.23 microdeletion, with the loss of 26–28 genes, that is responsible for WBS. Selected genes are labeled. Duplicons predispose to NAHR. More than 90% of WBS patients have the ~1.55-Mb pair deletion extending from
FKBP6 to
GTF2I, while approximately 5% have the slightly larger deletion of 1.84-Mb pairs. Very rare patients have atypical deletions smaller than the common deletion. Schematics of atypical deletions are shown on right and include a very small deletion encompassing
ELN and an adjacent gene; a typical centromeric breakpoint but not the common telomeric breakpoint; and a typical telomeric breakpoint but not the typical centromeric breakpoint. Not all genes are shown; see ref.
20 for a complete list of genes. WBSCR, WBS critical region.
