CATCH 22 = mnemonic for DiGeorge syndrome
- Cardiac - aortic arch anomalies, conotruncal (TOF, truncus arterious,
interrupted aorta), tricuspid atresia,
- Abnormal facies - hypertelorism, ear anomalies, short down slanting
palpebral fissures (antimongoloid), short philtrum
- Thymic hypoplasia - cellular immune deficiency: abnormal number and
function of T-cells)
- Cellular immune deficiency; Cleft palate
- Hypoparathyroid with hypocalcemia - tetany
- 22 chrom defect deletion 22q11; dx by FISH