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題 名 | Terminal Deletion of Chromosome 2q Associated with Graves' Disease: A Case Report and Literature Review=第二號染色體長臂尾端缺失合併葛瑞夫茲氏病一病例報告及文獻回顧 |
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作 者 | 朱紹盈; 蔡文友; 簡穎秀; 方菊雄; 古嘉雯; 張寶源; 胡務亮; | 書刊名 | 慈濟醫學 |
卷 期 | 16:3 2004.06[民93.06] |
頁 次 | 頁185-191 |
分類號 | 417.133 |
關鍵詞 | 第二號染色體長臂尾端缺失; 葛瑞夫茲氏病; 染色體異常; Chromosome anomaly; Chromosome 2q37.1 deletion; Graves' disease; |
語 文 | 英文(English) |
中文摘要 | 二號染色體長臂尾端的缺失(terminal deletion of 2q)是罕見的染色體異常疾病,而葛瑞夫茲氏病(Graves’ disease)是一種自體免疫性的甲狀腺功能亢進,它可以發生在任何一個年齡層但是少見於幼兒,第二號染色體長臂尾端缺失合併葛瑞夫茲氏病例則是非常罕見。有提出一病例報告,一位二十二歲的女性病患,染色體的核型是46, XX, del,除具典型的輕微外觀異常之外,且合併葛瑞夫茲氏病。人人有輕二微的智障、個性開朗、多譯、好奇、無防禦心、與部分文獻所報告的自閉行為、缺乏社經能力、重複性的動作及興趣並不同,病人的皮膚狀況非常不婕,除皮膚非常鬆軟之外,長年為濕疹、癢皮、毛囊炎及蜂窩性組織炎所苦關節的鬆軟和兩腳短不一及谷易感染與細胞外基質的病變如存於2q37的COL6A3基因是否有關仍待進一步研究。其肢端的異常包小手、小腳、長短腳、短指、左腳第一與第二趾間很寬、左腳第二趾的蹠骨很長,與文獻報告嚴重的肢端界常如裂手、裂腳常見的病變位置是在2q24-31雖有不同,根據其他文獻病人的統計推測2q31.1-qter此段缺失的染色體當中應有影響肢體發育的基因存在,只是目前還無法了解其致病的機轉。CTLA4基因位於2q33,目前發現與葛瑞夫茲氏病高度相關,而PDCD1基因位於2q37.3是免疫球膜蛋白,存在T和B細胞膜上,與T和B細胞之間的互相調控有關,病人的一個PDCD1 偶基因的缺失,是否與第二號染色體長臂尾端缺失基因交互作用的相關性仍待進一步研究。二號染色體長臂尾端的缺失所合併的其他異常也將在本文中回顧及討論。 |
英文摘要 | Terninal deletion of chromosome 2q is a rare chromosomal disorder. The clinical phenotype is mild but is usually associated with distinct craniofacial phenotype and variable digital anomalies. We describe a 22-year-old obsess woman with terminal delection of 2q. high-resolution blood chromosome study revealed a 46, XX, del krayotpye in a total of 20 cells, she had typical facial dysmorphisms including frontal bossing, long eyelashes, arched eyebrows, mid-facial hypoplasia, and low set, dysplastic ears. She was mildly mentally retarded, talkative, happy, and curious. This cheerful behavior was different from behavior anomaly previously reported in patients with this delection. Her limb anomalies were milder as compared with the split hands and split foot of patients with deletion of 2q24-31. Excessive sweating and cronic dirarrhea were noted since early infancy, and Graves’ disease was diagnosed at ehe age of 4 years. To our knowledge, this is the first report of a terminal deletion of the long arm of chromosome 2 associated with Graves’ disease. Since the genetic contribution of autoimmune thyroid disease are found to be associated with human leukocyte antigen (HLA) genes, thyrotropin gene (TSH), cytokine genes, and immune modulators such as cytotoxi T lymphocyte antigen-4 gene (CTLA4). CTLA4 is located on chromosome 2q33 and encodes a T cell surface molecule critical for controlling T-cell tolerance. The association between immune dysregulation and genes in the region of 2q37.1~qter such as the programmed cell death 1 (PTCD1) gene is worth further investigation. |
本系統中英文摘要資訊取自各篇刊載內容。