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 6 0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 。
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.
出处
《北京口腔医学》
CAS
2003年第4期187-190,共4页
Beijing Journal of Stomatology
基金
86 3重大专项子课题资助 (No .2 0 0 2BA71 1A0 7 1 1 )
