Goldenhar综合征家系的临床表型和遗传学分析  

Clinical features and hereditary analysis of a family with goldenhar sydrome

作　　者：黄雪霜[1] 姜海鸥[1] 黄世凡[2] 黄雪梅[1] 饶利兵[1] 谭灿[3] 肖玲[3] 张建湘[3] 

机构地区：[1]湖南省怀化医学高等专科学校,418000 [2]湖南省怀化市第三人民医院耳鼻咽喉科,418000 [3]中南大学湘雅医学院组织与胚胎学教研室,410078

出　　处：《中国优生与遗传杂志》2006年第12期112-114,126,共4页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金项目批准号:30671104

摘　　要：目的分析1组Goldenhar综合征家系的临床表现及遗传学特征。方法我们随访到1组4代33人的Golden-har综合征家系,对目前存活的29人进行了临床表型和遗传学的初步分析。结果家系内有Goldenhar综合征患者5人,临床表现具高度多样性,累及眼、耳、脊柱、颜面、口腔等多个器官和系统的发育不良,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查,未发现核型异常。结论该Goldenhar综合征家系属常染色体显性遗传,染色体检查未发现核型异常。Objective ： To observe the clinical symptoms and analyze the hereditary features of a family with Goldenhar syndrome. Methods ： We obtained a Chinese family with Goldenhar syndrome in 33 members of 4 generations and their clinical and hereditary features were analyzed. Results： There are 5 patients with Goldenhar syndrome in this family. The phenotype is extremely variable, which involvs optic anomaly, malformed ears, vertebral defect , facial dysplasia and oral defect etc. We found it was autosomal dominant disorder. Cell genetics analysis showed that the karyotype was normal. Conclusion： This Goldenhar syndrome belongs to autosomal dominant inherited disease with normal karyotype .

关 键 词：GOLDENHAR综合征 临床表现 遗传方式 染色体 

分 类 号：R596[医药卫生—内科学]