A couple attend for genetic counselling. Their 3-year-old son has cystic fibrosis, confirmed by newborn screening and genotyping; both parents are carriers of a *CFTR* mutation. Their 6-year-old daughter is well, has had a normal sweat test and has never had chest or bowel problems. They ask what the chance is that their daughter carries a cystic fibrosis mutation.
Which one of the following is the correct answer?
Keep going with ten more like this one.
Practise moreMore from Paediatrics
See allA 10-day-old boy born at term is brought in with two days of poor feeding, vomiting and lethargy, and today is floppy and grey. He is afebrile, with a heart rat…
Clinical rotations · niche
A 2-year-old boy weighing 12 kg has had two days of vomiting and profuse watery diarrhoea. He is now floppy and barely responsive, with cool mottled legs, a cap…
Clinical rotations · common
A 9-month-old girl was eating grapes when she suddenly began to struggle. When you reach her she is conscious, silent, not crying and not coughing, with her mou…
Clinical rotations · common
A 3-year-old girl has refused to walk or stand since waking this morning and screams when her right leg is moved. She had a cold last week. Her temperature is 3…
Pre-internship · common
A 12-year-old boy who is on the 97th centile for weight has had three weeks of aching in his right knee and a limp that his parents noticed because his right fo…
Clinical rotations · common