Article
Somatic mosaicism in a patient with Lynch syndrome.
American journal of medical genetics. Part A - 1 Feb 2009
Pastrello Chiara, Fornasarig Mara, Pin Elisa, Berto Eleonora, Pivetta Barbara, Viel Alessandra
Abstract excerpt
Genetic mosaicism is the presence of genetically different cell populations within an individual and can be associated with a milder disease phenotype. We describe a somatic mosaicism in a Lynch syndrome patient with a MLH1 gene mutation (c.1050delA). Since she was the sister of a heterozygous proposita, the mosaicism appeared to be caused by reversion of an inherited mutation and not a de novo mutation. In order...
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