基础医学与临床 ›› 2012, Vol. 32 ›› Issue (12): 1447-1449.

• 研究论文 • 上一篇    下一篇

Ⅰ型神经纤维瘤一家系4例的分析报告

周琴1,彭忠禄2,陈莹花2,刘晶2,雷日华2,张贵平2,肖毅仁2,罗桐秀3   

  1. 1. 湘南学院基础医学部
    2. 湘南学院
    3. 湘南学院化学与生命科学系
  • 收稿日期:2011-12-07 修回日期:2012-03-06 出版日期:2012-12-05 发布日期:2012-11-28
  • 通讯作者: 罗桐秀 E-mail:luotongxiu@163.com

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

  • Received:2011-12-07 Revised:2012-03-06 Online:2012-12-05 Published:2012-11-28

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11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。

关键词: Ⅰ型神经纤维瘤 家系 常染色体显性遗传病

Abstract: Objective To confirm the hereditary mode and the clinical manifestations of a Neurofibromatosis family with 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 in is normal, but Pedigree analysis showed NF1 in this family to corresponds autosomal dominant features. Conclusions Neurofibromatosis in this family is a NF1 family,and is autosomal dominant inherited disease.

Key words: Neurofibromatosis type 1 family autosomal dominant disorder

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