Article
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations.
Journal of medical genetics - 1 Sept 2023
Xu Naixin, Shi Weihui, Cao Xianling, Zhou Xuanyou, Jin Li, Huang He-Feng, Chen Songchang, Xu Chenming
Abstract excerpt
BACKGROUND: De novo mutations (DNMs) are linked with many severe early-onset disorders ranging from rare congenital malformation to intellectual disability. Conventionally, DNMs are considered to have an estimated recurrence rate of 1%. Recently, studies have revealed a higher prevalence of parental mosaicism, leading to a greater recurrence risk, resulting in a second child harbouring the same DNM as a previous...
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