查詢結果分析
相關文獻
- Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study
- 威廉氏症候群的故事
- 威廉氏症候群Williams Syndrome--附病例報告
- Wellens' Syndrome: A Case Report
- 威廉氏症候群:吉達法德國王醫院兩例報告
- 威廉氏症候群在早期物理治療介入兼以ICF模組呈現個案之活動及參與情形:病例報告
- Deviant Neural Correlates of Configural Detection in the Facial Processing of People with Williams Syndrome
- Williams Syndrome: A Case Report
- 威廉氏症候群
- Ischemic Stroke in Williams-Beuren Syndrome: A Case Report
頁籤選單縮合
題 名 | Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study=從轉介做分子細胞遺傳檢查診斷威廉氏症候群之病人的臨床特徵分析 |
---|---|
作 者 | 薛秋男; 周言穎; 莊曉婷; 蔡文暉; 蔡尚均; 吳俊明; 郭保麟; 林秀娟; | 書刊名 | 慈濟醫學 |
卷 期 | 16:1 2004.02[民93.02] |
頁 次 | 頁17-23 |
分類號 | 417.509 |
關鍵詞 | 威廉氏症候群; Elastin基因; 螢光染色體原位雜交分析; Williams-beuren syndrome; Elastin gene; Fluorescence in situ hybridization; |
語 文 | 英文(English) |
中文摘要 | 目的:威廉氏症候群是由於一股第七對染色體長臂(7q11.23)之缺損造成的疾病,其臨床表徵與缺損1.5~2.0 Mb區域所含的基因相關。臨床表徵包括先天性心臟血管疾病(SVAS/PPS)、智力發展遲緩、典型的elfin-like臉部、斜視等眼睛問題、異常友善的人格特質。本研究的目的在探討哪些臨床表徵可作為臨床診斷威廉式症候群的指標,進一步嚐試建立一個簡易臨床轉介的準則。材料與方法:我們的研究是從臨床疑似威廉氏症候群的25個病人,並依據年齡分成三組:第一組小於三歲、第二組為介於三歲與五歲之間、第三組大於五歲。每位病人以螢光染色體原位雜交分析作為診斷的依據。結果:25個病人中有19人呈現elastin基因缺損的現象。第一組14人中有9人(64.29%)有elastin基因缺損;第二組6人中有5人(83.33%)有elastin基因缺損;第三組6人中有6人(100%)有elastin基因缺損。分析比較這些有elastin基因缺損病人其臨床表徵的情形,在72%病人(25人中有18人)先天性心臟血管疾病(SVAS/PPS)、發展遲緩,68%病人(25人中有17人)有典型的elfin-like臉部,56%病人(25人中有14人)有智力不足,40%病人(25人中有10人)有異常友善的人格特質,28%病人(25人中有7人)有牙齒異常,4%病人(25人中有1人)有斜視,4%病人(25人中有1人)有高血壓;大多數病人呈現兩項以上的臨床表徵有elastin基因缺損情形。結論:臨床表徵如先天性心臟血管疾病、發展遲緩、典型的elfin-like臉部、智力不足、異常友善的人格特質、牙齒異常可作為臨床診斷威廉氏症候群的指標。並且,先天性心臟血管疾病配合其他一項以上的臨床表徵就可幫忙診斷威廉氏症候群。 |
英文摘要 | Objective: Williams-Beuren syndrome (WBS) is a contiguous gene deletion disorder in which the commonly deleted region encompasses about 1.5~2.0 Mb of DNA at 7q11.23. Clinical features of WBS change with age and vary between patients. We attempted to establish useful indicators for clinical recognition of WBS in infancy and childhood. Materials and Methods: We analyzed the clinical characteristics of 25 patients referred to us to confirm a diagnosis of WBS. Those 25 patients were classified into 3 groups: group 1, younger than 3 years; group 2, between 3 and 5 years old; and group 3, older than 5 years. A diagnosis was made by fluorescence in situ hybridization (FISH) analysis. Results: Nineteen of the 25 suspected cases (76%) were found to have deletion of the elastin gene. Nine of the 14 patients in group 1 (64.29%) had the deletion as did 5 in 6 in group 2 (83.33%) and 5 in 5 (100%) in group 3. Seventy-two percent (18/25) of patients with deletion of the elastin gene had congenital cardiovascular defects and developmental delay, 68% (17/25) had dysmorphic features, 56% (14/25) had mental retardation, 40% (10/25) had a gregarious personality, 28% (7/25) had dental abnormalities in, 4% (1/25) had strabismus, 4% (1/25) had systemic hypertension. Most of the cases (19/25) with more than 2 phenotypic features were found to have deletion of the elastin gene, particularly those with cardiovascular defects. Conclusions: The clinical characteristics, including SVAS/PPS, mental retardation, developmental delay, a dysmorphic face, dental abnormalities, and a gregarious personality may be useful indicators of WBS. Although cardiovascular defects alone cannot serve as an absolute indicator, the combination of cardiovascular defects with 1 of the other phenotypic features can help make a diagnosis of WBS. |
本系統中英文摘要資訊取自各篇刊載內容。