Article
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.
Scientific reports - 15 Nov 2017
Yang Xiaoxu, Liu Aijie, Xu Xiaojing, Yang Xiaoling, Zeng Qi, Ye Adam Yongxin, Yu Zhe, Wang Sheng, Huang August Yue, Wu Xiru, Wu Qixi, Wei Liping, Zhang Yuehua
Abstract excerpt
Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by a severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen and 15 parents who donated multiple peripheral tissue samples. We used an ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect parental...
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