Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

doi:10.1136/jmg.34.4.306

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Article

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Journal of medical genetics - 1 Apr 1997

Fryssira H, Palmer R, Hallidie-Smith K A, Taylor J, Donnai D, Reardon W

Abstract excerpt

Both Williams syndrome and isolated supravalvular aortic stenosis (SVAS) are caused by mutations at the elastin locus. Deletion demonstrable by FISH is the hallmark of Williams syndrome, whereas the mutations reported so far in SVAS have been more subtle. FISH positive elastin hemizygosity has no...

Topics

Adolescent
Alleles
Aortic Valve Stenosis
Elastin
Humans
In Situ Hybridization, Fluorescence
Male
Williams Syndrome

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