In DiGeorge syndrome, what does the acronym CATCH22 refer to?

CATCH22 is a mnemonic used to remember the key features of DiGeorge syndrome, which is caused by a deletion on chromosome 22, specifically a 22q11.2 deletion. The components of CATCH22 encompass:

• Cardiac defects: Many individuals with DiGeorge syndrome have congenital heart defects, which can include issues such as tetralogy of Fallot or truncus arteriosus.
• Abnormal facies: This refers to characteristic facial features seen in DiGeorge syndrome, including features such as a long face, low-set ears, and a prominent nasal bridge.
• Thymic aplasia: This results in varying degrees of immunodeficiency because the thymus is crucial for T-cell development. Aplasty or hypoplasia of the thymus leads to an increased susceptibility to infections.
• Cleft palate: This is a common finding in individuals with DiGeorge syndrome, which can range in severity from a complete cleft to a submucosal cleft.
• Hypocalcemia: This is due to parathyroid gland dysfunction that may accompany the deletion, leading to low calcium levels and potential seizures.
• 22q11 deletion: The genetic basis of