Due to the complex phenotype, we evaluated the patient's DNA using comparative genomic hybridization (CGH) analysis (BeadChip technology with a Single Nucleotide Polymorphism based array; Illumina HD Human610-quad BeadChip platform). This revealed a ~3 Mb hemizygous microduplication of chromosome 22q11.2, the same region as the classical 22q11 microdeletion syndrome [9], as well as the 22q11.2 duplication with a less well-characterized phenotype [10]. This region contains genes coding for approximately 20 proteins expressed in brain and/or bone.
