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

Figure 2

Comparison of NR0B1 locus duplications. Representation from the UCSC genome browser (NCBI36/hg18) of the NR0B1 locus on Xp21.2. The probes that delineate the breakpoints in the three independent families identified by our group are represented by red vertical lines. The horizontal blue line represents the extension of the duplication in the family here described, the green lines represent the duplicated regions previously described by our group, and the orange lines represent the two duplications identified by array CGH in patients with isolate 46,XY GD by other groups. The C and P at the right ends of the lines indicate if the GD was complete or partial, respectively.