Mosaicism

Abstract

Mosaicism refers to the presence of genetically different cells in a multicellular organism that have been derived from a single fertilized egg. The genetic change can take many forms and occur through many mechanisms. The clinical manifestations of mosaicism may be reflected in patchy or streaky pigment, overgrowth or undergrowth, and asymmetric growth or anomalies. When considering mosaicism, it is important to study other tissues in addition to blood.

Keywords: mosaicism; chimera; germ‐line mosaicism; somatic cell mosaicism; mutation; clinical abnormalities

References

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Further Reading

American Journal of Medical Genetics (1999) Papers from the International symposium ‘mosaicism in human skin’. American Journal of Medical Genetics 85: 328–364.

Bernards A and Gusella JF (1994) The importance of genetic mosaicism in human disease. New England Journal of Medicine 331: 1447–1449.

Flannery DB (1990) Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism. American Journal of Medical Genetics 35: 18–21.

Hall JG (1988) Review and hypotheses: somatic mosaicism: observations related to clinical genetics. American Journal of Human Genetics 43: 355–363.

Hurst LD and Ellegren H (1998) Sex biases in the mutation rate. Trends in Genetics 14: 446–452.

Jonkman MF (1999) Revertant mosaicism in human genetic disorders. American Journal of Medical Genetics 85: 361–364.

Qian F and Germino GG (1997) ‘Mistakes happen’: somatic mutation and disease. American Journal of Human Genetics 61: 1000–1005.

Tischfield JA (1997) Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination. American Journal of Human Genetics 61: 995–999.

Web Links

Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) (FGFR3); Locus ID: 2261. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261

Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (NF1); Locus ID: 4763. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4763

Tuberous sclerosis 1 (TSC1); Locus ID: 7248. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7248

Tuberous sclerosis 2 (TSC2); Locus ID: 7249. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7249

Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) (FGFR3); MIM number: 134934. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?134934

Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (NF1); MIM number: 162200. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?162200

Tuberous sclerosis 1 (TSC1); MIM number: 605284. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?605284

Tuberous sclerosis 2 (TSC2); MIM number: 191092. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?191092

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How to Cite close
Hall, Judith G(Jan 2006) Mosaicism. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005478]