Figure 1

Relative position of probes and LCR22s on the chromosome 22q11 region. MLPA probes (blue bars) are arranged according to the manufacturer's instructions (MRC-Holland). qPCR probes (green bars) are designed for each amplicon within and flanking the deletion region. Sequence information for probes CO3M, A3M, M3M, T3M and TO3M, are derived from Chen et al. [20]. Commonly used FISH probes for N25 (a orange fish) TUPLE1 (a brown fish) are indicated. Ranges of LCR22-A, -B, -C, and -D, as defined by Shaikh et al. [39], are depicted as thick red lines. BID-1 and -2, in the genome of BID (NM197966); HIRA-1 and -2, in the genome of HIRA (X89887); LZTR1-1 and -2, in the genome of LZTR1 (NM006767). Genomic distances between probes are proportional to the exact size and size of unit genome is 0.3 Mb as indicated. The orientation of the sequence is centromere (Cen) to telomere (Tel).