Postzygotic mutation

A postzygotic mutation (or post-zygotic mutation) is a mutation that an organism acquires during its lifespan, rather than inheriting from its parent(s) by the fusion of the haploid pronuclei in the sperm and egg.

Further reading

• Rijntjes-Jacobs, Esther G.J.; Lopriore, Enrico; Steggerda, Sylke J.; Kant, Sarina G.; Walther, Frans J. (2010). "Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation". American Journal of Medical Genetics Part A 152A (11): 2816–9. doi:10.1002/ajmg.a.33635. PMID 20949522. 
• Robertson, Stephen P.; Thompson, Sarah; Morgan, Timothy; Holder-Espinasse, Muriel; Martinot-Duquenoy, Véronique; Wilkie, Andrew O. M.; Manouvrier-Hanu, Sylvie (2006). "Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders". European Journal of Human Genetics 14 (5): 549–54. doi:10.1038/sj.ejhg.5201586. PMID 16538226. 
• Fryns, J. P.; van den Berghe, H. (2008). "An asymmetric type of chondrodysplasia in an adult male. Another example of postzygotic mutation for an autosomal dominant gene?". Clinical Genetics 30 (4): 324–7. doi:10.1111/j.1399-0004.1986.tb00614.x. PMID 3791680.