A 24‐month‐old female with severe physical and mental retardation is described. Peripheral lymphocytes demonstrated tetraploid/diploid mosaicism. That this does not represent an artifact in vitro was supported by the finding of buccal mucosal cells with two Barr bodies and tetraploid/diploid mosaicism in fibroblasts and bone marrow cells.
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Kelly et al. (1974) studied this question.