Fig. 3
From: Ichthyosis with confetti: clinics, molecular genetics and management
Schematic of the copy-neutral mechanism of mitotic recombination leading to revertant mosaicism in a patient affected with ichthyosis with confetti. The patient is heterozygous for a pathogenic mutation in the KRT10 locus (17q21.2, indicated by a horizontal bar within the long arm of the chromosome). During somatic cell division, the parental affected keratinocyte bears homologous chromosomes with wild-type (wt) and mutant (mut) genotypes (a). Following a crossover event proximal to the KRT10 locus both homologous chromosomes will have one chromatid carrying each genotype (b). Then, daughter cells receiving the same allele will be homozygous at that locus for either wild-type (revertant cell) or mutant (affected cell) genotype (c). A single revertant daughter cell will expand and give rise to the “confetti-like” skin spot