Article
Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin.
American journal of medical genetics - 9 Aug 1996
Dobkin C S, Nolin S L, Cohen I, Sudhalter V, Bialer M G, Ding X H, Jenkins E C, Zhong N, Brown W T
Abstract excerpt
The fragile X mutation is diagnosed from the structure of the FMR1 gene in blood cell DNA. An estimated 12 to 41% of affected males are mosaics who carry both a "full mutation" allele from which there is no gene expression and a "premutation" allele which has normal gene expression. We compared the DNA in blood cells and skin fibroblasts from four mosaic fragile X males to see if there was a difference in the...
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