Characterization of Copy Number Variations in the Human Genome
Copy number variation and mosaicismNotini A.J.a · Craig J.M.b · White S.J.a
aMolecular Development and bDevelopmental Epigenetics, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Vic. (Australia)
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Mosaicism is the presence of cells within an organism that have a different genetic composition despite deriving from a single zygote. The consequence of this depends on the number and type of cells that are affected as well as the specific DNA involved. There are several diseases where mosaicism is known to occur, but the currently observed frequency is presumably an underestimation due to the difficulty of detecting changes in only a percentage of cells. Recent advances in technology have provided a greater insight into the frequency and mechanisms of mosaicism in all forms. This review will cover the different techniques that can be used for detecting copy number variation (CNV) in mosaic form, and describe some of the insights that different diseases have given on the true frequencies and mechanisms responsible for somatic rearrangements. It will conclude with a discussion of the implications of the recent description of CNV in identical twins, and what remains to be elucidated in the world of mosaic CNV.
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