29th February 2024

A 29-year-old female is seen in the genetics clinic for pre-natal counselling

A 29-year-old female is seen in the genetics clinic for pre-natal counselling. Her 12-year-old brother is a wheelchair user after struggling with his mobility throughout his childhood, and she is worried that her children will be similarly affected. Her brother had poor motor development as a child. He would consistently walk his hands along his thighs when attempting to stand from a squatting position. His calves also appeared disproportionately more prominent than the rest of his legs. She denies any significant past medical history. Her husband is also well and has no family history of this condition.

Assuming the patient’s brother’s condition was not caused by a new de novo mutation, what are the chances that her son will be affected by a similar condition?

Select the SINGLE most appropriate option from the list below. Select ONE option only.