fragile x syndrome Flashcards
1
Q
cause
A
repeat expansion of the CGG in the FMR1 gene
2
Q
presentation
A
- intellectual disability and delayed speech and motor development
- autism, ADHD and seizure disorders
- long narrow face, large ears and prominent jaw and forehead
- males can have longer than normal testes
3
Q
presentation in females
A
is usually much milder than in males and they usually have no symptoms due to reduced penetrance
