| Williams syndrome--the Singapore General Hospital experience. | |
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MedLine Citation:
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PMID: 9285033 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Williams syndrome first described in 1961 is generally characterised by mental deficiency, gregarious personality, unusual "elfin" facies, supravalvular aortic stenosis and idiopathic infantile hypercalcaemia. Patients with Williams syndrome show a hemizygous submicroscopic deletion of 7q11.23 detectable by fluorescent in-situ hybridisation (FISH). The deleted portion of the chromosome corresponds to the Elastin gene. We report 3 girls with characteristics of Williams syndrome in whom the diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by FISH. These patients, aged 6, 7 and 10 years, showed the characteristic facies and gregarious personalities. Some developmental delay with mild mental deficiency and dysmorphic facies were prominent features in the initial presentation. Cardiac lesions found in these patients were small patent ductus arteriosus which closed, pulmonary valvular stenosis and mitral valve prolapse associated with mitral regurgitation respectively. Hypercalcaemia was not documented in these patients. Learning difficulty was a major issue and all patients required special schooling. Chromosome analyses done on peripheral blood were found to be normal in all patients. FISH using the Elastin Williams Syndrome Chromosome Region (WSCR) probes (oncor) showed the hemizygous deletion of 7q11.23. Diagnosis of Williams syndrome can now be confidently confirmed with the help of FISH. |
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Authors:
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S H Teo; D K Chan; M H Yong; I S Ng; K Y Wong; L Knight; L Y Ho |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Annals of the Academy of Medicine, Singapore Volume: 26 ISSN: 0304-4602 ISO Abbreviation: Ann. Acad. Med. Singap. Publication Date: 1997 May |
Date Detail:
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Created Date: 1997-11-04 Completed Date: 1997-11-04 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7503289 Medline TA: Ann Acad Med Singapore Country: SINGAPORE |
Other Details:
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Languages: eng Pagination: 360-4 Citation Subset: IM |
Affiliation:
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Department of Paediatric Medicine, Singapore General Hospital, Singapore. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Chromosomes, Human, Pair 7 Female Gene Deletion Humans In Situ Hybridization, Fluorescence Williams Syndrome / diagnosis*, genetics |
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