Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?

Abstract

We report a female with a de novo 46,X,der(X)t(X;Y) (p22;q12) translocation who presented with short stature, mild clinical features of Turner syndrome and a Madelung deformity. It appears that some particular radiological and/or clinical skeletal features are common in females carrying X-Y translocations. Based on the corresponding papers and on clinical findings of our patient we discuss the significance of Madelung deformity encountered in X-Y translocations, dyschondrosteosis and Turner syndrome.