ABSTRACT
Turner syndrome with abnormalities of X chromosome is generally characterized by gonadal dysgenesis causing premature ovarian failure, primary and secondary amenorrhea. Premature ovarian failure is often caused by X chromosome aberrations. It has been shown that gross X chromosome abnormalities such as monosomy X usually result in primary amenorrhea and poor pubertal development, whereas mild X chromosome abnormalities such as partial X deletions usually lead to secondary amenorrhea and fairly good pubertal development. Fertility has been reported in several patients with relatively small Xq deletions before the onset of premature ovarian failure, and the X chromosome abnormality is often inherited by offspring. We describe a 46,X,del(X)(q26) female with normal pregnancy, in whom same karyotype was found in the fetus by amniocentesis. We report this case with brief review of related literatures.