Mosaicism in XX males.
Three males with a 46,XX karyotype are described. In two of them, evidence of a Y-containing line was found. In the first case, 1 of 500 lymphocyte metaphases was 48,XXY. In the second, 1 of 400 oral mucosa cells contained a Y body. The proportion of low-grade XX/XXY mosaics found among XX males now stands at about 17%.
D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics*