| Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis. | |
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MedLine Citation:
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PMID: 9138154 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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H Fryssira; R Palmer; K A Hallidie-Smith; J Taylor; D Donnai; W Reardon |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 34 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1997 Apr |
Date Detail:
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Created Date: 1997-07-29 Completed Date: 1997-07-29 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 306-8 Citation Subset: IM |
Affiliation:
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Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Alleles Aortic Valve Stenosis / complications, genetics* Elastin / genetics* Humans In Situ Hybridization, Fluorescence Male Williams Syndrome / complications, genetics |
| Chemical | |
Reg. No./Substance:
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9007-58-3/Elastin |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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