Mosaicism is a biological phenomenon that describes the presence of two or more populations of cells within an individual. The genetic differences that distinguish these populations of cells are thought to arise from postzygotic events, such as mutations or abnormal cellular division. Mosaicism has been implicated in over 30 disorders that show variable expressivity, including mitochondrial disorders, cancer, and developmental disorders. This entry describes the history of mosaicism; its proposed causes, detection, and clinical manifestations; and the use of genetic mosaics in experimental biology.

The Origins of Mosaicism

The term mosaisicm was first used by U.S. geneticist Curt Stern in the 1930s to describe his observation of unusual genetic recombination during somatic cell division. Mosaicism is derived from the word mosaic, which refers to the artistic arrangement ...

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