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| 面横裂及附耳家系的临床表型及遗传学分析 | |
| 引用本文： | 范志朋,刘惠敏,王松灵,祁森荣,刘青杰,沈岩.面横裂及附耳家系的临床表型及遗传学分析[J].北京口腔医学,2003,11(4):187-190. |
| 作者姓名： | 范志朋 刘惠敏 王松灵 祁森荣 刘青杰 沈岩 |
| 作者单位： | 1. 100050,首都医科大学口腔医学院基因治疗分子生物学实验室 2. 163453,大庆石油管理局龙南医院 3. 100716,国家人类基因组北方研究中心 |
| 基金项目： | 国家高技术研究发展计划(863计划);2002BA711A07-11; |
| 摘 要： | 目的：分析1组面横裂及附耳家系的临床表现及遗传学特征。材料和方法：我们随访到1组面横裂及附耳家系，家系内随访到共有5代发病，目前存活有4代，家系内共有成员60余人，进行了临床表型和遗传学的初步分析。结果：家系内有并发面横裂及附耳症状的病例5人，单纯附耳症状的病例7人，在遗传方式上属于常染色体显性遗传，从细胞遗传学水平对家系中成员进行染色体检测，未发现核型及染色体的异常。结论：家族性面横裂及附耳为常染色体显性遗传，核型及染色体检测未发现异常。 |
| 关 键 词： | 面横裂 附耳 染色体 核型 细胞遗传学 临床表型 常染色体显性遗传 |
| 文章编号： | 1006-673X(2003)04-0187-04 |
| 修稿时间： | 2003年3月12日 |
CLINICAL FEATURES AND HEREDITARY ANALYSIS OF A FAMILY WITH MACROSTOMIA AND ACCESSORY FAGUS |
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| FAN Zhi peng et al.Faculty of Stomatology,Capital University of Medical Sciences,Beijing.CLINICAL FEATURES AND HEREDITARY ANALYSIS OF A FAMILY WITH MACROSTOMIA AND ACCESSORY FAGUS[J].Beijing Journal Of Stomatology,2003,11(4):187-190. | |
| Authors: | FAN Zhi peng Faculty of Stomatology Capital University of Medical Sciences Beijing |
| Institution: | FAN Zhi peng et al.Faculty of Stomatology,Capital University of Medical Sciences,Beijing 100050 |
| Abstract: | Objective:To observe the clinical symptoms and analyze the hereditary features of a family with hereditary macrostomia and accessory fagus.Methods:We obtained a Chinese family with macrostomia and accessory fagus in 60 members of 4 generations and their clinical and hereditary features were analyzed.Results:There were 5 patients with macrostomia and accessory fagus,7 patients with simple accessory fagus in this family,which were found to be autosomal dominant disorder.Cell genetics analysis showed that the karyotype and chromosome were normal. Conclusion:Hereditary macrostomia and accessory fagus belongs to autosomal dominant inherited disease with normal karyotype and chromosome. |
| Keywords: | chromosome macrostomia accessory fagus genetics karyotype |
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