Figure 1.

Schematic representation of the causal structural rearrangement in family A. Upper scheme represents the normal state and lower scheme represents the rearranged state of the 14q region in the patients. The genes involved in the rearrangement are represented by the blue boxes; gray boxes indicate a DMR. Arrowheads indicate the 5′ to 3′ direction. The green section is deleted in the patients, the red section is duplicated and inserted in between the deletion breakpoints in reverse orientation. A full color version of this figure is available at the European Journal of Human Genetics journal online.