Clinical genetics - examples Flashcards
1
Q
Tuberous Sclerosis
A
Autosomal dominant
2
Q
Polycystic kidney disease
A
Autosomal dominant
3
Q
Wilson’s disease
A
Autosomal recessive
4
Q
von Willebrand’s disease
A
Autosomal dominant
5
Q
Vitamin D resistance rickets
A
X-linked dominant
6
Q
Neurofibromatosis T1/T2
A
Autosomal dominant
7
Q
Christmas disease (factor IX deficiency)/Hamophilia B or Haemophilia A
A
X-linked recessive
8
Q
Marfan’s syndrome
A
Autosomal dominant
9
Q
Myotonic dystrophy
A
Autosomal dominant
10
Q
Leigh’s syndrome
A
Mitochondrial
11
Q
Agammaglobulinaemia
A
X-linked recessive
12
Q
Phenylketonria
A
Autosomal recessive
13
Q
Red-green colour blindness
A
X-linked recessive
14
Q
Thalassaemia
A
Autosomal recessive
15
Q
Familial polyposis coli
A
Autosomal dominant
