Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Duplication Syndrome, also known as chromosome 22q11.2 microduplication syndrome, is related to patau syndrome and atrial heart septal defect. An important gene associated with Chromosome 22q11.2 Duplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and 15q11.2 copy number variation syndrome. Affiliated tissues include heart and thymus, and related phenotypes are intellectual disability and hypotonia