Fragile X Syndrome Flashcards
1
Q
What is the inheritance pattern of Fragile X syndrome and what is the defect?
A
- X-linked recessive
2. Single gene mutation, unstable CGG triplet repeat.
2
Q
Which syndrome is the most common cause of inherited learning disability?
A
Fragile X syndrome
3
Q
What is this a presentation of?
Learning difficulties/autism/ADHD, physical features apparent during adolescence (long, thin, asymmetrical face; prominent forehead, jaw and ears; large testicles), mitral valve prolapse.
A
Fragile X syndrome
4
Q
How is Fragile X syndrome diagnosed?
A
Array CGH and PCR
5
Q
What is the management for Fragile X syndrome?
A
- Supportive education
- Speech and language support
- Life expectancy normal
