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中华临床医师杂志(电子版) ›› 2020, Vol. 14 ›› Issue (12) : 1042 -1044. doi: 10.3877/cma.j.issn.1674-0785.2020.12.018

所属专题: 经典病例 文献

病例报告

Sotos综合征NSD1基因新位点变异一例并文献复习
石凯丽1,(), 李瑞芳2, 赵惠敏2, 杜丽君2, 韩虹2   
  1. 1. 510623 广州,广州市妇女儿童医疗中心神经内科
    2. 030013 太原,山西省儿童医院神经内科
  • 收稿日期:2020-06-26 出版日期:2020-12-15
  • 通信作者: 石凯丽

A new mutation of Sotos syndrome: a case report and literature review

Kaili Shi1(), Ruifang Li2, Huimin Zhao2   

  • Received:2020-06-26 Published:2020-12-15
  • Corresponding author: Kaili Shi
引用本文:

石凯丽, 李瑞芳, 赵惠敏, 杜丽君, 韩虹. Sotos综合征NSD1基因新位点变异一例并文献复习[J]. 中华临床医师杂志(电子版), 2020, 14(12): 1042-1044.

Kaili Shi, Ruifang Li, Huimin Zhao. A new mutation of Sotos syndrome: a case report and literature review[J]. Chinese Journal of Clinicians(Electronic Edition), 2020, 14(12): 1042-1044.

图1 Sotos综合征患儿头颅MRI图像 图a为T1轴位,图b为T2轴位,显示患儿双侧侧脑室明显扩张,前纵裂池及双侧额颞部脑外间隙增宽
图2 Sotos综合征患儿基因测序结果  NSD1基因存在1个新生剪切位点缺失变异c.4378+1_c.4378+4delGTGA,父母均为野生型
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