X-to-X translocation associated with gonadal dysgenesis and discrete Turner syndrome stigmata; a case report

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In this paper we report an unusual type of X-to-X translocation with a translocation of the acentric part of the short arm of the X-chromosome onto the long arm of the X-chromosome at band Xq21.1 (karyotype: 46,X,t(X;X)(q21.1;p11.3). In addition to gonadal dysgenesis this 32-year-old female presented short stature and discrete Turner stigmata.