The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome).

Abstract excerpt

Subjects with 46,XY gonadal dysgenesis (Swyer syndrome) have a distinctive phenotype. They are normal or tall in stature, lack somatic anomalies, and possess bilateral rudimentary gonads. Critical Yp deletions have been described in some cases, but in the majority no defects at the molecular level have been reported. To verify the presence or absence of SRY, the putative testicular-determining factor gene,...

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