Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis
| Autor: | J Taylor, K A Hallidie-Smith, R Palmer, Helen Fryssira, Dian Donnai, Willie Reardon |
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| Jazyk: | angličtina |
| Rok vydání: | 1997 |
| Předmět: |
Male
Williams Syndrome Pathology medicine.medical_specialty Adolescent Locus (genetics) Hemizygosity macromolecular substances Biology Genetics medicine Humans Allele Genetics (clinical) Alleles In Situ Hybridization Fluorescence integumentary system Anatomy Aortic Valve Stenosis medicine.disease humanities Elastin Aortic valve stenosis In situ hybridisation biology.protein cardiovascular system Williams syndrome Supravalvular aortic stenosis Research Article |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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