Figure 1.

Summary of Microarray Analysis of Individuals with Copy Number Imbalances at 17q23.1q23.2

At the top of the figure is a partial idiogram showing chromosome bands 17q22-17q23.2 with genomic coordinates corresponding to the hg18 build of the human genome. Orange boxes represent segmental duplications (seg dups), with paired segmental duplications indicated by blue boxes. The location and orientation of the 18 kb inverted duplication and the 15 kb direct duplication contained within the paired segmental duplications are indicated by arrows marked A and B, respectively. The complex segmental duplication structure of this region has been simplified for illustrative purposes. Diagrams show the deletions in seven individuals with microdeletions at 17q23.1q23.2. Six of the seven deletions were refined with a high-density, 244K oligonucleotide microarray (patients 1–4, 6, and 7). A 105K oligonucleotide microarray was used for patient 5. Vertical dashed lines indicate the 2.2 and 2.8 Mb deletion sizes in the individuals. Blue boxes represent all known genes annotated in OMIM in the deletion region. OMIM genes TBX2 and TBX4 are shown as yellow boxes.