title: Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
abstract: 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 not been reported in isolated SVAS. This report records our experience of FISH for elastin deletion in isolated SVAS and specifically reports a patient with non-Williams related SVAS, positive for the elastin deletion by FISH.
authors.affiliation: Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
authors.forename: H
authors.initials: H
authors.lastname: Fryssira
authors.forename: R
authors.initials: R
authors.lastname: Palmer
authors.forename: K A
authors.initials: KA
authors.lastname: Hallidie-Smith
authors.forename: J
authors.initials: J
authors.lastname: Taylor
authors.forename: D
authors.initials: D
authors.lastname: Donnai
authors.forename: W
authors.initials: W
authors.lastname: Reardon
mesh_terms: D000293:Adolescent; D000483:Alleles; D001024:Aortic Valve Stenosis / Q000150:complications / Q000235:genetics*; D004549:Elastin / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018980:Williams Syndrome / Q000150:complications / Q000235:genetics
chemical_list: D004549:Elastin