Mendelian Inheritance Flashcards
1
Q
List the organs affected by cystic fibrosis
A
- Reproductive organs
- Intestines
- Pancreas
- Liver
- Lungs
- Skin
- Sinuses
2
Q
Achondroplasia:
A
- Bone growth disorder which causes disproportionate dwarfism: limbs are shorter than normal
- Normally caused by spontaneous mutation in the FGFR3 gene
- Autosomal dominant condition
3
Q
Huntington’s Disease
A
- A neurodegenerative disease that is autosomal dominant
4
Q
Duchenne Muscular Dystrophy (DMD):
A
X - linked
Only occurs in males
Fatal in early male adult life