1
Q
What is Huntington’s Disease?
A
An autosomal dominant, triple repeat expansion disorder affecting chromosome 4
2
Q
How is Leber’s hereditary optic neuropathy inherited?
A
Mitochondrial
3
Q
How is Vitamin D resistant rickets inherited?
A
X-linked dominant
4
Q
How is myotonic dystrophy inherited?
A
Autosomal dominant
5
Q
What are patients with Klinefelter’s at increased risk of?
A
Autoimmune disease
6
Q
Where is the DMD gene found?
A
Dystrophin gene, short arm of X chromosome
7
Q
What are the classical features of Hartnup disease?
A
- Pellagra-like dermatitis
2. Neurological involvement
MSRA
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