CATCH22 is an acronym for a number of phenotypic features seen with some patients with a 22q11 deletion. Some authors recommend discontinuing use of the term because it is a subset of the del 22q11 syndromes..
Term
Feature
C
cardiac defect
A
abnormal facies
T
thymic hypoplasia
C
cleft platate
H
hypocalcemia (secondary to hypoparathyroidism)
22
del 22q11
where:
• Abnormal facies may include the cardiofacial syndrome (Cayler Syndrome).
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