Y-Chromosomal Genes in a Phenotypic Male With a 46XX Karyotype

Autor: Dosik, Harvey, Wachtel, Stephen S., Khan, Farida, Spergel, Gabriel, Koo, Gloria C.
Zdroj: JAMA: Journal of the American Medical Association; November 1976, Vol. 236 Issue: 22 p2505-2508, 4p
Abstrakt: 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 techniques, we have located a minor population of XXY cells as well as cells bearing an abnormal chromosome 17 among the blood leukocytes of this individual.(JAMA 236:2505-2508, 1976)
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