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- FISH Analysis in Both Classical and Atypical Cases of Williams-Beuren Syndrome
- Russell-Silver Syndrome: Molecular Diagnosis of Maternal Uniparental Disomy of Chromosome 7 Using Methylation-Specific Polymerase Chain Reaction Assay and Single Uncleotide Polymorphisms Genotyping
- Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study
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題名 | FISH Analysis in Both Classical and Atypical Cases of Williams-Beuren Syndrome=以螢光性原位雜交法分析典型及非典型Williams-Beuren氏症 |
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作者 | 侯家瑋; 王主科; 王作仁; Hou, Jia-woei; Wang, Jou-kou; Wang, Tso-ren; |
期刊 | 中華民國小兒科醫學會雜誌 |
出版日期 | 19981100、19981200 |
卷期 | 39:6 民87.11-12 |
頁次 | 頁398-403+433 |
分類號 | 417.584 |
語文 | eng |
關鍵詞 | Williams-Beuren氏症; 主動脈瓣上狹窄; Elastin基因; 第七對染色體; Williams-Beuren syndrome; Supravalvualr aortic stenosis; Elastin gene; ELN; Chromosome 7; |
中文摘要 | Williams-Beuren氏症(WBS)是一罕見的神經發育疾病,其特征钖特殊臉型、生長遲延、智障及先天性心臟病如主動脈瓣上狹窄/週圍肺動脈狹窄,有時亦出現嬰兒期高血鈣症。吾等研究典型或非典型WBS病人之表現型-基因型關聯。基因型的分析钖傳統細胞遺傳學及以螢光原位雜交法分析elastin基因缺損情況。在八名典型WBS病例,其中五名以高解析度分帶法測出7q11.22-11.23片段缺損,然而已螢光性原位雜交法可看出elastin基座的變化。於非典型病人則只有一名可見致病的變化。其他三名只見血管狹窄之病例則有較正常的精神動發育。另外顯微鏡下可見較大7q缺損之病例合併較多的器官畸形,其原因乃除了elastin基座變化外,其附近基因之牽連將造成更多的WBS外在表現。 |
英文摘要 | 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 (ie, 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. |
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