Chromosome 22q11 duplication in two families. A. Schematic representation of the region, highlighting the extent of the duplications in the two families (blue line), the localization of the MLPA probes (red triangles) and FISH probes (yellow ovals) used, and the genes within the interval along with their orientation (green arrows). B. MLPA peak ratio for 22q11 MLPA test probes in Family 5 individual AU001804. Red, probes with peak ratios > 1.3, corresponding to HIRA, CLDN5 and SNAP29; green, probes with peak ratios <= 1.3.C. FISH results of the 22q11 duplication. a, test probe TUPLE1 (red) in 22q11 shows three copies, whereas the control probe ARSA (green) in 22q13 shows two copies. b, both test probes b186O8 (green) and p901P22 (red) in 22q11 show three copies. D. Segregation of the duplication in the two families.
Cai et al. BMC Medical Genomics 2008 1:50 doi:10.1186/1755-8794-1-50