Genetic disease and Chromosomal abnormality Flashcards
1
Q
Autosomal dominant diseases
A
Achondrodysplasia Adult PKD Ehlers-Danlos & Marfans FAP Huntingtons Osteogenesis imperfecta Tuberous sclerosis
2
Q
Autosomal recessive diseases
A
CAH Cystic fibrosis Hereditory haemochromatosis Wilsons Thalassaemia Sickle cell
3
Q
X-linked recessive
A
Duchenne and Becker muscular dystrophy
G6PD deficiency
Haemophilia A and B
4
Q
Down syndrome
A
Trisomy 21
5
Q
Edward syndrome
A
Trisomy 18
6
Q
Patau syndrome
A
Trisomy 13
7
Q
Turner syndrome
A
45 XO
8
Q
Klinefelter syndrome
A
47 XXY
9
Q
Mutations for CF
A
On long arm of Chronic 7
Coding for CFTR
