Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics.
This study, based on the investigations carried on 82 cases of Turners of which 50 of them were mosaics and 85 cases of Klinefelters of which 70 of them were mosaics, is an attempt to explain the vast range of clinical variations observed in cytogenetically established Turner mosaics (45,X/46,XX) and Klinefelter mosaics (47,XXY/46,XY) in the light of the degree of mosaicism present in them. It was observed that the severity of the syndrome in Turner mosaics and Klinefelter mosaics increased with the relative increase in the abnormal cell line population.
D000328:Adult; D005260:Female; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*