遗传 ›› 2002, Vol. 24 ›› Issue (6): 646-648.

• 论文 • 上一篇    下一篇

一个罕见的屈指畸形家系的遗传学调查

夏峰1;曹勇军1;洪宗元2;李美英1;丁绍青1   

  1. 1.东南大学医学院附属马鞍山市人民医院神经内科,安徽 马鞍山 243000; 2.中国科学技术大学生命科学学院,合肥 230022
  • 收稿日期:1900-01-01 出版日期:2002-12-10 发布日期:2002-12-10

  • Received:1900-01-01 Online:2002-12-10 Published:2002-12-10

摘要: 报告一个罕见的常染色体显性遗传病家系的遗传学调查情况,该家系患者主要表现为第Ⅱ、Ⅲ、Ⅳ、Ⅴ指近节指间关节先天性屈曲畸形,功能障碍,部分患者伴有先天性高度近视。

Genetical Investigation on a Rare Genealogy of Congenital Camptodactyly
XIA Feng1,CAO Yong-jun1,HONG Zhong-yuan2,LI Mei-ying1,DING Shao-qing1
1.Department of Neurology,Maanshan Municipal People's Hospital of Medical College of Southeast University,Maanshan 243000,China;
2.Life Science College of Chinese Science and Technology University,Hefei 230022,China
Abstract:Introduced a rare genealogy of autosomal dominant inheritance disease,which cardinal signs were congenital camptodactyly and functional disturbance of the proximal interphalangeal joints of the Ⅱ,Ⅲ,Ⅳ,Ⅴ fingers.Part cases had congenital high myopia.
Key words:congenital camptodactyly; inherited disease

关键词: 屈指畸形, 遗传性疾病