Fragile X syndrome Flashcards
1
Q
What type of condition is fragile X syndrome?
A
Genetic condition
2
Q
What is fragile X syndrome due to?
A
CGG trinucleotide repeat in the FMR gene on the X chromosome
3
Q
On which gene is the trinucleotide repeat in someone with fragile X sydnrome?
A
On the X chromosome
4
Q
What is fragile X the most common cause of?
A
Inherited cause of learning disabilities
5
Q
What are the main presentinf features of fragile x syndrome?
A
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
6
Q
What facial features can someone with feagile X syndrome present with?
A
Long face
Large ears
Macrocephaly
