D-Transposition of the Great Arteries in a Case of Microduplication 22q11.2

The 22q11.2 deletion syndrome is one of the most frequent genetic syndromes, mainly characterized by cleft palate, facial dysmorphism, conotruncal heart malformations and immune deficiencies. Microduplication of the 22q11.2 region is a quite recently characterized genetic entity comprising a variable phenotype including some overlapping features with the 22q11.2 deletion syndrome. So far only few reports of patients with this microduplication and heart defects have been published. To our knowledge this is the first description of a patient with genetically confirmed duplication of the 22q11.2 region and d-transposition of the great arteries (d-TGA) as well as Ebstein’s anomaly.