Figure 3

11q24.1-25 region, showing the previously defined [7] critical regions for some of the common Jacobsen syndrome features, and the location of the rearrangements detected in the present subjects 1 and 2. Chromosome bands are shown on the left, and the megabase (Mb) position on the right, with the positions and functions of some genes of interest. The patients' deletions are represented by red vertical lines, and the duplication of subject 1 by a blue vertical line. The 780 Kb region of deletion overlap between these two patients is shown by a red shaded box, and includes the CpG island 4929 (black arrow) that contains a (CCG)₆ repeat. A third red vertical line labeled 'W' shows the size of the interstitial deletion reported by Wenger et al [11]. The critical regions [7] for MRI abnormalities (MRI), heart defects (H) and Paris-Trousseau syndrome (PTS) are shown by three vertical grey lines, with the proximal molecular marker indicated at the top of each line. A 1.57 Mb refined critical region for conotruncal heart defects is represented by two arrowheads (from the distal end of subject 2's deletion to the distal end of the deletion seen in the patient reported by Wenger et al [11].