Mosaicism and the trisomy 8 syndrome

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Abstract
New cases (3) of trisomy 8 mosaicism are presented; 2 have features corresponding with those usually found in this syndrome, and 1 is highly atypical. The literature is reviewed with an emphasis on the patterns of mosaicism found. There is little correlation between degree of mosaicism and extent of clinical abnormality. The degree of mosaicism differs in different tissues, fibroblasts being more informative of aneuploidy than lymphocytes, and there is some evidence that the degree of mosaicism varies with time. The reasons for these findings are discussed, with reference to the raised paternal age found in a proportion of the reported cases.

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