Fragile X Syndrome – Board-Style Questions

What this deck covers

fragile X 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. Skipping a generation
2. The grandfather’s hands
3. Her periods have stopped
4. What has changed at fifteen
5. Why the protein is missing
6. Who else in the family
7. He will not look at me
8. Fits at school
9. Two sisters, two pictures
10. A result in between
11. Who else should know
12. How he learns best
13. Never still in class
14. Awake half the night
15. What the protein does
16. Biting his hand
17. The anxiety is worse
18. Life after school

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: The laboratory has mixed up the samples belonging to this family, A late effect of carrying a small expansion of the same gene himself, A tumour of the pituitary gland producing prolactin in excess of the normal range, Breast tissue that has enlarged on both sides during this period, The long repeat draws chemical tags that switch the gene off entirely, An entirely new change that has arisen in this boy by chance, Complete indifference to people, as seen in severe autism, It means a brain tumour must be excluded before anything else, The proportion of cells using the healthy copy differs between them, Her children would face exactly the same risk as those of a full carrier woman, Testing of the boy’s school class as well as his own relatives, Long spoken instructions repeated slowly until he manages to obey them, Offer a trial of a stimulant medicine alongside the classroom plan, Allow him to sleep whenever he wishes during the following day.

Clinical pearls from this deck

• It grows only when a woman passes it on.
• Carrier grandfather with a reaching tremor: a late disorder.
• Early ovarian failure with an affected nephew: test her.
• Big testes after puberty: a pointer to the diagnosis.
• Long repeat, methyl tags, silenced gene, no protein.
• Affected males through well women: think X-linked.

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.