45,X/46,XY mosaicism: a cause of short stature in males

Alexandra Efthymiadou, Eunice G. Stefanou, Dionisios Chrysis

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45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals …