Mosaicism in XX males

Hum Genet. 1978 Nov 24;45(1):103-6. doi: 10.1007/BF00277581.

Abstract

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%.

MeSH terms

  • Humans
  • Infertility, Male / genetics
  • Karyotyping
  • Male
  • Mosaicism*
  • Sex Chromosome Aberrations / genetics*