Figure 1.
Schematic diagram illustrating the location of constitutional translocation breakpoints on chromosome 22 relative to chromosomal bands and LCRs. The relative position of six of eight known LCRs (13) are shown below their respective banding locations (LCRs A–F are shown). The repeated sequence modules comprising LCR-B are shown as large filled arrows in the expanded view. The locations of cosmid clones (c68a1 and ZNF74) used as probes in FISH studies to localize breakpoints to LCR-B of 22q11.2 are shown. The common LCR-B breakpoint is present within an ~90 kb gap in the known 22q11.21 sequence. This breakpoint is flanked by palindromic AT-rich repeats (gray hatched regions) found within one of three NF1L modules (gray filled arrows) present within LCR-B.