🔍 QUIZ: DiGeorge Syndrome

 

1. What chromosome is affected in DiGeorge Syndrome?
→ Chromosome 22q11.2 deletion

2. What is the mnemonic used to remember symptoms?
→ CATCH-22

3. What does CATCH-22 stand for?

• C: Cardiac defects (e.g. Tetralogy of Fallot, VSD)

• A: Abnormal facies (distinct facial features)

• T: Thymic hypoplasia (→ immune deficiency)

• C: Cleft palate (or velopharyngeal insufficiency)

• H: Hypocalcemia (→ seizures, due to parathyroid hypoplasia)

4. What is a common immune system issue in DiGeorge syndrome?
→ T-cell deficiency due to underdeveloped thymus

5. Why do patients often have seizures?
→ Hypocalcemia from underdeveloped parathyroid glands

6. What heart defects are commonly seen?
→ Conotruncal heart defects such as:

• Tetralogy of Fallot

• Interrupted aortic arch

• Truncus arteriosus

7. Is DiGeorge syndrome inherited or spontaneous?
→ Often spontaneous, but can be autosomal dominant if inherited

8. How is it diagnosed?
→ FISH test or microarray (genetic testing for 22q11.2 deletion)

9. What are common developmental and learning issues?
→ Speech delay, learning disabilities, behavioral issues

10. What kind of facial features might be seen?
→ Low-set ears, hooded eyelids, small chin, wide nasal bridge