Turner 综合征中体细胞核型嵌合体对二叶式主动脉瓣及主动脉夹层的影响。
The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome.
机构信息
Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 6.106, Houston, Texas.
出版信息
Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):7-12. doi: 10.1002/ajmg.c.31691. Epub 2019 Feb 27.
Somatic mosaicism is a major modifier of turner syndrome (TS) features and may be more prevalent than once thought, as new molecular techniques enable detection of tissue-specific mosaicism. This review explores the causes of mosaicism, discusses how mosaicism may impact congenital aortic defects in TS, and summarizes molecular methods to detect mosaicism in different contexts.
嵌合体是特纳综合征（Turner syndrome，TS）表型的主要修饰因子，其可能比人们之前认为的更为普遍，因为新的分子技术使组织特异性嵌合体的检测成为可能。本文探讨了嵌合体的发生原因，讨论了嵌合体如何影响 TS 患者的先天性主动脉缺陷，并总结了在不同情况下检测嵌合体的分子方法。
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