Fragile X syndrome is one of the most common inherited causes of intellectual disability — yet it’s also one of the most complex genetic conditions to understand.

In this episode, Associate Professor Ali Archibald explains Fragile X in clear, practical terms, unpacking how the condition is inherited, what carrier screening looks for, and why results can vary so widely between individuals and families.

The conversation covers:

• What Fragile X syndrome is and how it affects development

• The difference between being a carrier and having the condition

• CGG repeat numbers, premutations, and why “risk” is not one-size-fits-all

• The role of AGG interrupts in refining risk assessment

• Why Fragile X carrier results require specialist genetic counselling

• How clinicians help people move from a result to informed next steps

This episode highlights why Fragile X screening sits outside routine primary care conversations, and why time, expertise, and careful explanation are essential for people to feel informed rather than overwhelmed.

This episode is relevant for clinicians, prospective parents, and anyone navigating reproductive carrier screening or Fragile X results.