Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

R Happle - Journal of the American Academy of Dermatology, 1987 - Elsevier
A genetic concept is advanced to explain the origin of several sporadic syndromes
characterized by a mosaic distribution of skin defects. It is postulated that these disorders are
due to the action of a lethal gene surviving by mosaicism. The presence of the mutation in
the zygote will lead to death of the embryo at an early stage of development. Cells bearing
the mutation can survive only in a mosaic state, in close proximity with normal cells. The
mosaic may arise either from a gametic half chromatid mutation or from an early somatic …