Figure 1

Schematic representation of 15q11-q13. The chromosome 15q11-q13 is depicted, with breakpoints utilized in PWS/AS deletions and autism-associated duplications and triplications represented by larger jagged lines. Smaller jagged lines identify rare chromosomal breakpoints which delimit the PWS and AS critical regions. Centromeric (cen) and telomeric (tel) orientation is shown and breakpoints are numbered from BP1-BP5. Arrows over the map show the intervals deleted in PWS/AS and duplicated in duplications or triplications affecting 15q11-q13. Gene and framework marker positions are indicated over the map. The most narrow autism candidate region is based on the smallest autism-associated maternally-biased duplications.