File:Mutation inherited, de novo, somatic.png
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[edit]DescriptionMutation inherited, de novo, somatic.png |
English: Caption: "Overview of categories of variation including inherited (panels A–C), de novo (panels D,E), and somatic variation (panels F,G). Inherited mutations are always transmitted through the germline (A); although a parent may also have a mosaic mutation (this combination of somatic and germline mosaicism is occasionally termed gonadal mosaicism) (B); In such cases, a child may inherit the variant as a heterozygous mutation with a more severe clinical phenotype. A parent may also have germline mosaicism that may be inherited by progeny (C); De novo mutations are operationally defined as genotypes observed in a child but not in either parent. They may originate in a parental germ cell (as may be inferred in a pedigree having multiple affected offspring) (D) or postzygotically (E); Somatic mutation may occur relatively early in development (F) or at any later time throughout the lifespan (G), generally affecting fewer cells." |
Date | |
Source | Freed, Donald; Stevens, Eric; Pevsner, Jonathan (2014-12-11). "Somatic Mosaicism in the Human Genome". Genes. 5 (4): 1064–1094. doi:10.3390/genes5041064. ISSN 2073-4425. PMC 4276927. PMID 25513881. |
Author | Donald Freed, Eric L. Stevens, and Jonathan Pevsner |
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current | 19:47, 30 April 2020 | 1,024 × 1,272 (490 KB) | HFHah (talk | contribs) | Uploaded a work by Donald Freed, Eric L. Stevens, and Jonathan Pevsner from Freed, Donald; Stevens, Eric; Pevsner, Jonathan (2014-12-11). "Somatic Mosaicism in the Human Genome". Genes. 5 (4): 1064–1094. doi:10.3390/genes5041064. ISSN 2073-4425. PMC 4276927. PMID 25513881. with UploadWizard |
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