Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy

Nat Genet. 2023 Nov;55(11):1784-1785. doi: 10.1038/s41588-023-01552-2.

Abstract

Brain somatic mosaicism is linked to several neurological disorders, thought to arise post-zygotically. The recent study by Miller et al. suggests prezygotic aneuploidy followed by postzygotic partial reversion leads to a recurrent form of brain mosaicism-related epilepsy.

MeSH terms

  • Aneuploidy*
  • Brain
  • Humans
  • Mosaicism*
  • Zygote