Inheritance and Genetic Counselling – Board-Style Questions

What this deck covers

inheritance and genetic counselling 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. Cousins in clinic
2. No sample stored
3. An uncertain line in the report
4. The panel came back clear
5. Before the blood is taken
6. A test he did not ask for
7. Longer each generation
8. Same deletion, different child
9. Every child a different story
10. A clear carrier screen
11. Spreading the news
12. Neither parent affected
13. Another way to a healthy baby
14. A number on a screening letter
15. What he passes on
16. A brother with the news
17. A finding without symptoms
18. Reaching the relatives

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: The chance of a whole chromosome being gained or lost during egg formation, Nothing can be offered until the family’s own variant has been identified, It confirms the cause and his sister should be checked at once, Her parents should be told she has an entirely different disorder, That the sample may reveal unrelated disease and unexpected family relationships, Test the boy now, as the father holds parental responsibility, The expansion contracts in each generation, so the next baby would be milder, Boys and girls express chromosome 15 deletions differently, The proportion of faulty mitochondria differs between her eggs, No chance at all of a recessive condition in their children, Test every relative who can be contacted, in any order, One of the parents must be an undiagnosed mild case of the same condition, Embryos are checked before transfer, so no pregnancy has to be ended, It is a diagnosis, and further testing would add nothing.

Clinical pearls from this deck

• Related parents: two copies of one rare variant.
• No variant in the family, no prenatal test to offer.
• Uncertain means unusable, not mildly positive.
• A clear panel lowers the odds, it does not clear the child.
• Consent covers what the test may find uninvited.
• Adult-onset, no childhood action: wait for the child.

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 genetics and metabolic case decks · pediatric reference values.