Trinucleotide Repeat Expansion Diseases Flashcards
1
Q
Friedreich ataxia
A
GAA
2
Q
Huntington disease
A
CAG
3
Q
Myotonic muscular dystrophy
A
CTG
4
Q
Trinucleotide repeat expansion diseases often show…
A
Genetic anticipation, meaning disease severity increases and age of onset decreases in successive generations.
5
Q
Fragile X syndrome
A
CGG
6
Q
Fragile X syndrome is an X-linked defect affecting…
A
Methylation and expression of the FMR1 gene.
7
Q
What are the clinical findings in fragile X syndrome?
A
- Post-pubertal macroorchidism (enlarged testes)
- Long face with a large jaw
- Large everted ears
- Autism
- Mitral valve prolapse
