Article
A six-attribute classification of genetic mosaicism.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2020
Martínez-Glez Víctor, Tenorio Jair, Nevado Julián, Gordo Gema, Rodríguez-Laguna Lara, Feito Marta, de Lucas Raúl, Pérez-Jurado Luis A, Ruiz Pérez Víctor L, Torrelo Antonio, Spinner Nancy B, Happle Rudolf, Biesecker Leslie G, Lapunzina Pablo
Abstract excerpt
Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural or copy-number variants, small or single-nucleotide variants, or epigenetic variants. The mutational events that underlie mosaic variants occur during mitotic cell divisions after...
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