Gonadal Dysgenesis with XO/XX Mosaicism and a Positive Sex Chromatin Pattern

Abstract
A case is presented of gonadal dysgenesis in a 14-yr-old white female found to have short stature, cubitus valgus, primary amenorrhea and underdeveloped secondary sexual characteristics. Chromosome analyses of material cultured from peripheral blood revealed a 45/46 mosaic with an XO/XX pattern. A significant right to left discrepancy was found in the sex chromatin findings of oral muscosal cells and in the sex chromosome composition of skin specimens obtained from the right and left sides of the body. The clinical characteristics of this patient and the possibility of bilateral mosaicism are discussed.