Ⅰ型神经纤维瘤一家系4例的分析报告  

Analysis report of four patients with Neurofibromatosis type 1 from a family

作　　者：周琴[1] 彭忠禄[2] 陈莹花[1] 刘晶[2] 雷日华[2] 张贵平[2] 肖毅仁[2] 罗桐秀[2] 

机构地区：[1]湘南学院基础医学部,湖南郴州423043 [2]湘南学院化学与生命科学系,湖南郴州423043

出　　处：《基础医学与临床》2012年第12期1447-1449,共3页Basic and Clinical Medicine

基　　金：郴州市科技局计划项目(2009jh22)

摘　　要：目的分析一个面部有巨大神经纤维瘤家系的临床表现及遗传方式。方法根据美国国立卫生研究院(NIH)提出的神经纤维瘤诊断标准进行诊断,通过染色体检查和家系分析方法确定遗传方式。结果家系12名成员中有3名患者表现出Ⅰ型神经纤维瘤的4项临床特征,染色体检查无异常,家系分析表现出常染色体显性遗传特点。结论该家系为Ⅰ型神经纤维瘤家系,遗传方式为常染色体显性遗传。Objective To confirm the hereditary mode and the clinical manifestations of a Neurofibromatosis family where a patient develops a huge plexiform neurofibroma on the face.Methods The clinical manifestations was checked based on the standard diagnostic criteria for NF1 issued by National Institute of Health（NIH） in 1988,then the pedigree analysis and chromosome examination were carried out.Results Four clinical features of Neurofibromatosis type 1（NF1） was shown in three of the seven members in the family.The chromosome phenotype is normal,but Pedigree analysis showed that NF1 in this family meets autosomal dominant features.ConclusionsNeurofibromatosis in this family is a NF1 family,and is an autosomal dominant inherited disease.

关 键 词：Ⅰ型神经纤维瘤 家系 常染色体显性遗传病 

分 类 号：R739.4[医药卫生—肿瘤]