A case of mosaicism with fragile-X and XXY components.
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.
D005600:Fragile X Syndrome / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000150:complications*