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Web’s most frequently asked questions about mosaicism

Mosaicism is the presence of two or more genetically different sets of cells within the same person. It is a biological phenomenon that may have no effect, but it could also lead to genetic disorders. Following our video that explains the basics of mosaicism, our team has put together this booklet that answers some of the web’s most common questions about mosaicism, such as:  

  • What is mosaicism?
  • How does mosaicism occur?
  • Mosaicism vs. chimerism
  • Germline vs. somatic mosaicism
  • Mosaicism symptoms

References

Machiela, Mitchell J. “Mosaicism, aging and cancer.” Current opinion in oncology vol. 31,2 (2019): 108-113. doi:10.1097/CCO.0000000000000500https://journals.lww.com/co-oncology/abstract/2019/03000/mosaicism,_aging_and_cancer.9.aspx

Thorpe, Jeremy et al. “Mosaicism in Human Health and Disease.” Annual review of genetics vol. 54 (2020): 487-510. doi:10.1146/annurev-genet-041720-093403https://www.annualreviews.org/content/journals/10.1146/annurev-genet-041720-093403

Levy B. et al. (2021) “Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.” Prenatal diagnosis vol. 41,5 (2021): 631-641. doi:10.1002/pd.5931https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176867/pdf/nihms-1700211.pdf

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