Genetics Flashcards
1
Q
What is fragile X syndrome?
A
A trinucleotide repeat disorder (CGG) within the FMR1 gene on the X chromosome.
2
Q
What are the key features of fragile X syndrome?
A
Mild to moderate learning disability
Long, narrow face, flexible joints and large testicles.
Hypotonia
3
Q
Are males or females more affected by fragile X syndrome?
A
Males.
4
Q
What is the diagnostic test for fragile X syndrome?
A
Analysis of the number of CGG repeats using restriction endonuclease digestion and southern blot analysis
Autism
