GTGT/ΔGT CNV in families of patients with p47^phoxCGD. In the pedigrees presented, the GTGT/ΔGT genotype is above the individual tested. Symbols in black represent patients and carriers with the ΔGT mutation; symbols in red represent patients and carriers with non-ΔGT mutations; symbols in black and red represent compound heterozygotes with a ΔGT mutation and a non-ΔGT mutation; open symbols represent individuals tested that have a normal phenotype and genotype; faded symbols represent individuals that have not been tested but their phenotype is presumed. Consanguineous marriages are indicated by double lines between pedigree symbols.