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歷 年 稿 件 內 容
 
*類別: D組-分子醫學
* 姓名: 黃閔輝
投稿種類:
*中文投稿標題: 利用基因晶片分析產前診斷的標記染色體
*中文作者姓名列: 黃閔輝;李正義;張嘉訓;王漢州;賴惠玲;李毓芬;林婷姿 ;楊志雲;何素鵬
*中文服務單位: 國立中興大學獸醫學系;優氏醫事檢驗所;李婦產科診所
*英文投稿標題: The use of chromosomal microarray analysis in prenatal diagnosis of small supernumerary marker chromosome
*英文作者姓名列: Min-Hui Huang, George Lee, Jia-Shyuhn Chang, Han-Chow Wang, Hui-Ling Lai, Yu-Fen Li, Ting-Tse Lin, Shih-Yun Yang, Shu-Peng Ho
*英文服務單位: Department of Veterinary Medicine, National Chung Hsing University, Youthgene Medical Laboratory, Dr. Lee’s Women’s Clinic
* 投稿摘要: Abstract Objective: Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be thoroughly characterized by conventional cytogenetics. The array CGH is helpful in prenatal diagnosis of detected sSMCs by providing more information on the origin and the genetic contents of the sSMC. Materials and methods: Between January 2004 and December 2015, 55 cases with small supernumerary marker chromosome were diagnosed through amniocentesis at Dr. Lee’s women’s clinic, Youthgene medical laboratory, Taipei, Taiwan. We use array CGH to successfully analyze 44 of them. Results: The percentage of small supernumerary marker chromosomes in all amniocentesis is 0.081 % (55/68,087). The major indications for amniocentesis with sSMCs are advanced maternal age (69.09%, n=38). An array CGH study of the amniocytes revealed 5 cases of pathologic gene dosage, respectively compatible with Cat eye syndrome are three cases and Pallister Killian syndrome are two cases. Conclusion: The aCGH has a useful tool that allows us to detect small fragments of chromosomal abnormalities and sSMC origins.
*關鍵字1 : Prenatal diagnosis
*關鍵字2 : marker chromosome
*關鍵字3 : array CGH
*關鍵字4 : Cat eye syndrome
*關鍵字5 : Pallister Killian syndrome
* 服務機關:
* 第一作者: 黃閔輝
* 身分字號: *****65567
其他投稿作者: 李正義
身分字號: *****54070
其他投稿作者: 張嘉訓
身分字號: *****56100
其他投稿作者: 王漢州
身分字號: *****44126
其他投稿作者: 賴惠玲
身分字號: *****49477
其他投稿作者: 李毓芬
身分字號: *****30680
其他投稿作者: 林婷姿
身分字號: *****90776
其他投稿作者: 楊志雲
身分字號: *****45457
上傳稿件檔:
審查委員意見: OK
審查委員意見: 無意見
主任委員意見:
 
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