Document Detail


FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
MedLine Citation:
PMID:  9926515     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder, characterized by distinct facial changes, growth deficiency, mental retardation, supravalvular aortic stenosis (SVAS)/peripheral pulmonary stenosis, and associated at times with infantile hypercalcemia. A pilot study has been carried out to assess the reliability of the detection of hemizygosity at the elastin locus by fluorescence in situ hybridization (FISH) analysis as a diagnostic test in both classical and atypical WBS. Eight subjects with classical WBS and four others in whom a diagnosis could not be confirmed on clinical criteria alone were enrolled. In the classical WBS group, five (5/8) had a visible interstitial 7q11.22-11.23 deletion detected by high-resolution banding, and all (8/8) had a submicroscopic deletion of the elastin locus on chromosome 7 by FISH analysis. In the atypical WBS group, only one (1/4) had elastin deletion. The other three, with isolated SVAS, had normal development and minimal signs of WBS. Furthermore, the patients with microscopic 7q11.22-11.23 deletion have more associated features of WBS than those without visible interstitial deletions by high-resolution banding. These results, therefore, emphasize the importance of a combined high-resolution and molecular cytogenetic (i.e., FISH) approach to diagnosis and suggest that the degree to which microscopic/submicroscopic deletions of chromosome 7 extending in beyond the elastin locus may explain some of the phenotypical variability found in WBS.
Authors:
J W Hou; J K Wang; T R Wang
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui     Volume:  39     ISSN:  0001-6578     ISO Abbreviation:  Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi     Publication Date:    1998 Nov-Dec
Date Detail:
Created Date:  1999-02-18     Completed Date:  1999-02-18     Revised Date:  2008-02-12    
Medline Journal Info:
Nlm Unique ID:  16210470R     Medline TA:  Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi     Country:  TAIWAN    
Other Details:
Languages:  eng     Pagination:  398-403     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Child
Child, Preschool
Chromosomes, Human, Pair 7
Elastin / genetics*
Female
Gene Deletion
Genetic Markers
Humans
In Situ Hybridization, Fluorescence*
Infant
Male
Williams Syndrome / diagnosis*,  genetics
Chemical
Reg. No./Substance:
0/Genetic Markers; 9007-58-3/Elastin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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