Figure 1

Schematics of the 22q11.2 region. Previously reported deletions and deletions identified from our study are shown. A) The 10 qPCR primers used to screen for hemizygous deletions, orientation is centromere to telomere. B) Known low copy number repeats or segmental duplications in 22q11.2: LCR-A, LCR-B and LCR-D (Shaikh et al., 2000). C) Known genes [24]. D) Location of previously reported deletions in 22q11DS patients. E) Locations of hemizygous deletions and duplications identified in this study. For D and E, hashed ends represent regions of uncertainty regarding precise location of deletion breakpoints.