Figure 3. Pedigree chart and rearrangement schematic. A: Females are indicated by circles and males by squares. Shading indicates an affected individual, and arrows indicate the proband. B: A schematic diagram of the complex rearrangement in the proband, which includes the 6.15 MB deletion (including PITX2), an inversion of approximately 45.71 MB, and a 14-bp deletion. Black bands indicate deletion regions and red bands indicate inversion regions.