504904.fig.001
Figure 1: Family pedigree. Pedigree of a family with two sisters with 46,XY gonadal dysgenesis. +DAX1 indicates the subjects that carry the X chromosome containing the NR0B1 locus duplication. XX and XY have been added underneath some subjects indicating a 46,XX or 46,XY karyotype, respectively. Mandatory female carriers and potential carriers are marked.