Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23.
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All suffer from a heart defect called supravalvular aortic stenosis, or SVAS, in varying degrees of severity.
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Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis
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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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