Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis
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.