Genetics Flashcards
1
Q
Name 2 types of neuro disorders which are autosomal dominant
5 listed
A
Huntingtons Neurofibromatosis Tuberous sclerosis Charcot marie tooth Von hippel lindau
2
Q
Name 2 features of tuberous sclerosis
A
Ash leaf macules
Abnormal growths in kidneys, heart, eyes and lungs
Defects in tuberin, hamartin
3
Q
What type of inheritance is seen in CF and Tay Sachs?
A
Autosomal recessive
4
Q
Name 2 types of X-linked diseases
4 listed
A
Duchenne muscular dystrophe
Becker MD
Fragile X
Haemophilia
5
Q
What type of genetic inheritance causes:
- Leber’s hereditary optic neuropathy
- Kearn Sayre syndrome
- MELAS
- Pearson syndrome
A
Mitochondrial
6
Q
On which chromosome are there deletions/unexpressed in Prader Willi syndrome and Angelman’s syndrome?
A
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