发育医学电子杂志 2020, Vol. 8 Issue (2): 190-192 DOI: 10.3969/j.issn.2095-5340.2020.02.019
围产医学
病例报告
|产科
|
应用全外显子组测序产前诊断1 例罕见的 条纹状骨病伴颅骨硬化症
许伊云 张鑫悦 汪淑娟 等
解放军总医院第一 医学中心 妇产科,北京 100853
A rare case of striate bone disease with cranial sclerosis by whole exome sequencing at prenatal diagnosis
Xu Yiyun, Zhang Xinyue, Wang Shujuan, et al
摘要 孕妇31 岁,丈夫39 岁,孕2 产1,平素月经规律, (5 ~ 6)/28 d,末次月经2017 年8 月30 日。2017 年 12 月7 日因外院“孕12+3 周B 超提示胎儿颈后透 明带厚度0.3 cm”转诊至解放军总医院第一医学中 心,孕14+1 周复查B 超提示胎儿颈部皱褶(nuchal
fold,NF)厚度 0.48 cm,余未见明显异常;孕17+4 周 超声提示胎儿NF 厚度 0.76 cm,下颌骨短小,胎儿透 明隔腔显示不清。
关键词:
颅骨硬化症')" href="#">颅骨硬化症
全外显子组测序')" href="#">全外显子组测序
染色体
收稿日期: 2019-03-01
出版日期: 2020-04-30
发布日期: 2020-04-23
期的出版日期: 2020-04-30
基金资助: 军队计生专项研究基金军队出生缺陷干预救助体系的研究(16JS010)
通讯作者:
卢彦平https://baike.baidu.com/item/%E5%8D%A2%E5%BD%A6%E5%B9%B3/3839372?fr=aladdin
E-mail: luyp301@163.com
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