Genomic and Phenomic Studies of Velo-cardio-facial/DiGeorge Syndrome

Curtis Deutsch

This condition arises from deleted regions of a specific chromosome (number 22), and considerable variation exists in terms of the area with missing genetic material. Moreover, the faces of these individuals have many distinctive facial features, but there is variation in their assortment and pattern. It is noteworthy that there appear to be many neuropsychiatric and brain anatomic abnormalities in this condition as well. In a collaborative effort with the Harvard Center for Genetics and Genomics, we are “genetically dissecting” deleted areas of Chromosome 22, and relating it to phenotypic appearance. In doing, so we hope to identify specific genes that relate to specific anatomic and behavioral phenotypes that are biologically interpretable.