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

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

• A. Cardiac defects, Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia, 22q11 deletion
• B. Chronic asthma, Anemia, Tumors, Cleft palate, Heart defects, 22q11 deletion
• C. Cardiac defects, Abdominal pain, Thymic failure, Cleft palate, Hematologic disorders, 22q11 deletion
• D. Craniofacial abnormalities, Abnormal facies, Thymic dysplasia, Cleft lip, Hypercalcemia, 22q12 deletion

Answer: (A)

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

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