Multiple choice

A 30-year-old lady whose father is a suffer of Huntington disease requests genetic testing to determine if he has inherited the mutation. He is so far asymptomatic. She should be counseled

  1. At 30 years of age, she would already have shown symptoms if she had inherited the mutation.

  2. She faces a 50-50 risk of developing symptoms of Huntington disease.

  3. She remains at risk at age 30, though his risk is less than 50% being asymptomatic at this age.

  4. The fact that her father was the affected individual, which indicates that he must not have inherited the gene, since paternally-transmitted Huntington disease has onset in childhood.

Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

Huntington disease displays age-dependent penetrance. Her risk is now less than 50%, though it is still possible that she will develop the disorder.