Clinical phenotype and genotype characteristics of 17 cases of Noonan syndrome

Zhang Wen; Lin Yunting; Li Duan; Li Xiuzhen; Tao Chunyan; Mei Huifen; Cheng Jing; Jiang Minyan; Liu Li

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Clinical phenotype and genotype characteristics of 17 cases of Noonan syndrome

更新时间：2022-06-10

- Clinical phenotype and genotype characteristics of 17 cases of Noonan syndrome
- Journal of Chongqing Medical University Vol. 47, Issue 3, Pages: 300-305(2022)
- 作者机构：
  
  广州市妇女儿童医疗中心遗传与内分泌科,广州,510623
- 作者简介：
- 基金信息：
- DOI：
  CLC：
- Published：2022，
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Zhang Wen, Lin Yunting, Li Duan, et al. Clinical phenotype and genotype characteristics of 17 cases of Noonan syndrome. [J]. Journal of Chongqing Medical University 47(3):300-305(2022)
DOI：

Zhang Wen, Lin Yunting, Li Duan, et al. Clinical phenotype and genotype characteristics of 17 cases of Noonan syndrome. [J]. Journal of Chongqing Medical University 47(3):300-305(2022) DOI：

摘要

目的：为了增进对Noonan综合征（Noonan syndrome，NS）的认识，本文分析和总结了17例NS患儿的临床特点及基因分析结果。方法：回顾性分析2015年10月至2021年2月在广州市妇女儿童医疗中心诊断的17例NS患儿临床资料，通过全外显子联合Sanger测序分析基因变异类型。结果：17例NS患儿中男11例、女6例，诊断中位年龄4岁（5个月~ 11岁10个月）。17例患儿均具有典型特殊面容，伴有不同程度的精神运动发育迟缓；16例患儿就诊时身高身高标准差评分（standard deviation scores，SDS）

Abstract

Objective：To analyze and summarize the clinical characteristics and genetic analysis results of 17 children with Noonan syndrome（NS），and to improve the diagnosis and expand the knowledge of the disease. Methods：The clinical data of 17 patients with NS who were diagnosed in Guangzhou Women and Children’s Medical Center from October 2015 to February 2021 were retrospec－tively analyzed. Gene analysis was performed using whole exome sequencing and Sanger sequencing. Results：Seventeen children including 11 boys and 6 girls were diagnosed with Noonan syndrome in our hospital and the median age was 4 years（5 months to 11 years and 10 months）. All cases had typical facial features of Noonan syndrome，accompanied by different degrees of psychomotor retardation，with 16 cases of short stature（SDS

关键词

Noonan综合征临床表型基因分析

Keywords

Noonan syndromeclinical phenotypegenetic analysis

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