Fig. 3. Pedigrees of a familial case of 46,XY disorder of sex development (DSD).

a, b Two pedigrees illustrating the two branches of a family from the same community, presenting with 46,XY gonadal dysgenesis. Arrows indicate the three individuals for whom the whole genome sequence was obtained. c Distribution of phenotypes, incidence of gonadal tumors, and assigned sex of individuals with the SRY variant.