- As prevalent as 1/2000 people in US
- 22q11 chromosomal defect
- Keep in differential for hypocalcemia of unknown etiology in pediatric patient
- Cardiac defects
- Abnormal facies - micrognthia, long face, etc.
- Thymic hypoplasia - immune deficiencies
- Cleft palate
- Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.