Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome.

This is a report of a patient with delayed puberty and a previously unreported translocation 46,X -X, +der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed.