Figure 1.

Summary of known ATR-16 deletions that are >500 kb and associated with pure monosomy. Initials represent the patient code. Open boxes represent cases without learning difficulties; grey boxes, families in which some cases have learning difficulties whereas other do not; black boxes represent cases with learning difficulties. The length of the box shows the known extent of the deletion and the fine line indicates the region of uncertainty of the breakpoints. The positions of the genes in this region are shown at the top; the α-globin cluster is marked with a pale gray box; SOX8, TSC2, and PKD1 are shown in a larger font.