Chromosomes Flashcards
1
Q
21
A
-Unverricht-Lundborg
2
Q
6
A
- Type I & II sialidosis
- Lafora body disease
3
Q
13
A
-Wilson’s dx
4
Q
4
A
-Huntington’s dx
5
Q
9
A
- Neuroacanthocytosis
- Primary generalized dystonia
- Friedrich’s ataxia (GAA, frataxin)
6
Q
14
A
-Dopa-responsive dystonia (Segawa’s syndrome)
7
Q
12
A
-Episodic ataxia I
8
Q
11
A
-Ataxia-telangiectasia (ATM gene)
9
Q
14
A
-SCA3 (Machado-Joseph disease, ataxin 3, CAG)
10
Q
X
A
-Fragile X (CGG, FMR1 gene)
