| Abstract: | Three females, two with gonadal dysgenesis, are discussed who were chromatin negative and chromosomally showed mosaicism with two cell lines. One line was 45, X and the other had 46 chromosomes one of which was clearly dicentric in most cells and interpreted as a relatively stable dicentric Y isochromosome. In the first two subjects the isochromosome was of the long arms of the Y, and quantitative autoradiography in the first case supported this contention. The third dicentric isochromosome was thought to be of the short arms of the Y Laparotomy and gonadectomy were done in the first two patients. Serial sections of the gonads showed a single sterile testicular tubule in the right gonad of the first patient, while the left gonad of this patient and the only gonad of the other were sterile ‘streaks’. |
