Rs. James et al., EVIDENCE FOR A CRYPTIC 46,XX CELL-LINE IN A 45,X 46,X,PSU IDIC(XQ) PATIENT WITH NORMAL REPRODUCTION/, Journal of Medical Genetics, 34(12), 1997, pp. 1030-1032
Gonadal dysgenesis resulting in primary infertility is one of the most
common features of Turner syndrome. There have been a number of cases
described of pregnancy in 45,X subjects, but whether or not the ferti
lity is associated with a 46,XX cell line in the germ cells is not kno
wn. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility,
in whom a cryptic 46,XX cell line was found in the germ cells.