Figure 1

Subtelomeric region of chromosome 4q Only annotated, unique chromosome sequence is shown, derived from the November 2002 version of the UCSC Human Genome assembly (subtelomeric repeats would extend to the right of the diagram). A scale bar and the gene content (see Table 2) of the region are shown. The positions of the MAPH markers are also shown which allowed the maximum and minimum extents of the deletion to be defined (black bar). Above the chromosome region is shown the result of duplicate analysis from each MAPH probe (mean +/- 95% CI), together with the 3 standard deviation threshold and the results from the other control probes (mean +/- 95% CI).