Y-chromosomal genes in a phenotypic male with a 46XX karyotype.
A number of patients with a male phenotype and a female (46XX) karyotype have been described. Although there is little or no evidence for the presence of a Y chromosome in their cells, these individuals resemble patients with Klinefelter syndrome (47XXY). Using a new serological assay for the presence of H-Y antigen, a cell surface component associated with the Y chromosome, we have demonstrated the presence of Y-chromosomal genes in a 46-year-old man with an XX karyotype. In addition, using standard cytological technique, we have located a minor population of XXY cells as well as cells bearing and abnormal chromosome 17 among the blood leukocytes of this individual.
D002902:Chromosomes, Human, 16-18; D012734:Disorders of Sex Development; D005796:Genes; D006649:Histocompatibility Antigens; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D012730:Sex Chromosomes; D014178:Translocation, Genetic
D006649:Histocompatibility Antigens