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Detection and Impact of Mosaic Loss of Chromosome X

Sex-chromosome mutations are among the most detrimental to human health. Most are lethal or result in major loss of function, and their germline location allows mutations to affect multiple generations. A mosaic mutation causes an individual to have multiple populations of cells with different genotypes [1]. There are two types of mosaic chromosomal mutations (mCAs) that occur in germline cells. One has links to the Y chromosome in men (mLOY) while the other has links to the X chromosome in women (mLOX) [2].