Xu Jiajun,Shi Zhuo,Qiu Yunxiang,et al.MED13L gene mutation plus transposition of great arteries:one case report[J].Journal of Clinical Pediatric Surgery,2024,(08):787-788.[doi:10.3760/cma.j.cn101785-202303024-017]
合并完全性大动脉转位的MED13L基因突变1例
- Title:
- MED13L gene mutation plus transposition of great arteries:one case report
- 关键词:
- MED13L基因突变; 完全性大动脉转位
- 摘要:
- MED13L基因突变及MED13L单倍体不足可引起MED13L综合征,遗传方式为常染色体显性遗传,其临床表现主要包括智力障碍、特殊面容、肌张力低下、语言运动发育迟缓、行为障碍,伴有或不伴有先天性心脏病。本文报道1例产前超声心动图检查诊断为完全性大动脉转位的病例,孕母既往有多次流产史,本次妊娠于孕25+5周时行羊水穿刺采集羊水及父母血液标本,经羊水全外显子基因测序并验证,最终诊断为MED13L基因突变。
参考文献/References:
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备注/Memo
收稿日期:2023-3-7。
通讯作者:施珊珊,Email:sicu1@zju.edu.cn