Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23.
2.
All suffer from a heart defect called supravalvular aortic stenosis, or SVAS, in varying degrees of severity.
3.
Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis
4.
Fluorescent in situ hybridisation techniques have revealed that 96 % of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene.
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