Wrapping Up DiGeorge Syndrome in a T-box?

DIGEORGE SYNDROME (DGS) is characterized by congenital heart disease with parathyroid and thymic hypoplasia. Patients with related velocardiofacial syndrome (VCFS) have similar conotruncal defects and abnormal facies. Most patients with DGS/VCFS have chromosome 22q deletions that commonly include 24 contiguous genes (1). However, human genetic studies have… CONTINUE READING