先天性并指畸形Ⅰ型一家系报告  

Case Report of Syndactyly Type Ⅰ in Chinese Kindred

作　　者：陈登奕 崔曦[1] 齐常平 周欣 齐硕 师秀艳[4] 

机构地区：[1]沈阳医学院基础医学院,辽宁沈阳110034 [2]沈阳医学院附属中心医院手外科 [3]沈阳医学院 [4]基础医学院生物化学教研室

出　　处：《沈阳医学院学报》2016年第2期112-114,共3页Journal of Shenyang Medical College

基　　金：辽宁省科技厅课题(No.2015020389);辽宁省大学生创新创业训练计划(乙类)(No.1164);辽宁省自然科学基金项目(No.390)

摘　　要：目的:探讨先天性并指畸形Ⅰ型的遗传和临床特征。方法:回顾分析1例先天性并指畸形Ⅰ型患者的临床资料,并调查该家系发病情况,绘制家族发病系谱。结果:调查发现该家系4代20人中现存先天性并指(趾)畸形者8例,其中7人均患手足并指,1人仅足部分并趾,其余12人手足均正常。结论:先天性并指畸形Ⅰ型符合常染色体显性遗传特点。Objective： To investigate the genetic and clinical features of Syndactyly typeⅠ. Methods： Retrospective analysis of one case of Chinese kindred suffered from Syndactyly typeⅠ was done and a pedigree was drawn. Results： The pedigree showed a four-generation Han Chinese family. There were 20 members in the family. And 8 of them suffered from syndactyly type Ⅰ（ 7 of them showed syndactyly in hands and feet,1 of them only showed syndactyly in feet）,the remaining 12 were normal. Conclusion：Congenital syndactyly typeⅠis consistent with autosomal dominant inheritance.

关 键 词：并指(趾)畸形 遗传性疾病 基因 基因定位 

分 类 号：R682.15[医药卫生—骨科学]