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A case of mosaicism with fragile-X and XXY components
S Deb1, V A Cowie, C Timberlake
1Leicester Frith Hospital.
Abstract:
The case of a 63-year-old severely mentally handicapped man is reported with chromosomal mosaicism. His karyotype was established as mosaic 46XY/47XXY with the fragile site present in a proportion of cells of both cell-lines. He showed phenotypic features which could be related both to the fragile-X and Klinefelter's syndromes.