UKMLA Applied Knowledge Test (MSRA-style single best answer) · Musculoskeletal, Dermatology, Haematology, Genetics, Cancer and Palliative Care

Clinical genetics

7 practice questions, each with the answer and an explanation.

Practise Clinical genetics now

Random questions from this topic, one at a time. You see the answer and the explanation straight after each one.

All 7 questions

  1. A man has cystic fibrosis. His healthy sister is thinking of starting a family. Their parents are both carriers. What is her chance of being a carrier?
  2. A woman is a carrier of Duchenne muscular dystrophy and her partner is unaffected. What is the chance that a son is affected?
  3. A recessive condition affects 1 in 2500 births, and the population is in Hardy-Weinberg equilibrium. What is the approximate carrier frequency?
  4. A newborn has a flat facial profile, upslanting palpebral fissures, single palmar creases and hypotonia. Which complication should be screened for in the first days of life?
  5. A 14-year-old girl has short stature, a webbed neck, wide-spaced nipples and primary amenorrhoea. Which karyotype is expected?
  6. A 38-year-old has chorea and cognitive decline, and his father had a similar disease at an earlier age. Which statement is correct?
  7. A woman develops colorectal cancer at 38. Her father had endometrial cancer at 45 and her aunt had colorectal cancer at 40. Which syndrome is most likely?

Keep practising

More UKMLA Applied Knowledge Test (MSRA-style single best answer) topics

All UKMLA Applied Knowledge Test (MSRA-style single best answer) practice →

Ready for the full UKMLA Applied Knowledge Test (MSRA-style single best answer) test?

Take a mock testUKMLA Applied Knowledge Test (MSRA-style single best answer) hub