Manifestations of 22q11.2 deletion syndrome (mnemonic)
A mnemonic to remember the manifestations of 22q11.2 deletion syndrome (DiGeorge syndrome) is:
- CATCH 22
Mnemonic
- C: congenital heart disease (particularly conotruncal anomalies)
- A: abnormal facies (hypertelorism, low set ears, short philtrum, among others)
- T: thymic hypoplasia
- C: cleft palate/cellular immune deficiency
- H: hypoparathyroidism with hypocalcemia
- 22: deletion located on chromosome 22