22q11.2 Deletion Syndrome – Board-Style Questions

What this deck covers

22q11.2 deletion syndrome in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Choosing the right laboratory test
2. A count that is not as bad as it looks
3. The rare and severe end
4. Not listening in class
5. A problem that comes back
6. Choosing the right preparation
7. Did this happen by chance
8. The gene behind the pattern
9. Milk down the nose
10. Looking at the closure
11. School, and how it feels
12. The conversation for the teenage years
13. A pattern that changes with age
14. More than infection to watch
15. The test on the morning list
16. Long feeds and tired swallowing
17. More than the heart
18. An odd blood count before theatre

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Whole exome sequencing sent urgently from the neonatal unit, A modest reduction that usually improves as she grows, The usual partial form of the condition, needing no particular action, Wax obscuring the drums and blocking the canal, Low calcium returning at puberty or during illness, A single high-dose nutritional preparation given straight away, It follows a recessive pattern carrying a one in four risk, The chloride channel gene, A submucous cleft of the palate, Magnetic resonance imaging of the brain and neck, Normal learning with a purely behavioural problem, A slowly worsening sensorineural hearing loss, Immunoglobulin levels, which can fall in later childhood, Leukaemia infiltrating both the marrow and the joint lining.

Clinical pearls from this deck

• Microarray sizes the deletion and finds the rest.
• Mildly low T cells here usually improve with age.
• No thymus at all: transplant thymus tissue.
• Test hearing before calling a child inattentive.
• Reserve fails again at puberty and in illness.
• Glandular failure needs an activated analogue.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all rheumatology and immunology case decks · pediatric reference values.