A 46,XY/46,XX mosaicism diagnosed at amniocentesis: another case report.

摘要

The finding of a mixture of 46,XX and 46,XY cells at amniocentesis has been reported to occur at a frequency of about 1.5 per 1000 (Benn et al, 1983; Bui et at, 1984; Worton and Stern, 1984). The vast majority of these cases are the result of contamination by maternal cells in an otherwise normal male fetus Occasionally, the presence of 46,XX and 46,XY cell lines are true chimerism or mosaicism, which can be associated with sexual ambiguity Here, we report on a case of 46,XX and 46,XY mosaicism diagnosed at amniocentesis.