Genetic Flashcards
1
Q
Chromosomal abnormalities
A
4: achondroplasia
7: wiliam
10: HDR
11: Beckwith weidmann
13: patau
15: parder wili, angelman
17: NF1
18: edward
21: down
22: NF2
2
Q
Types of Inheritance
A
AR: sickle cell, CF, maple syrup urine disease, thalssemia, infantile type polycystic kidney disease, galactossemia, pku
AD: adult type, NF, tuberous sclerois, osteogenesis imperfecta, marfan, achondroplasia, VWD
X linked recessive: agammaglobulinemia(bruton), hemophilia A/B, G6PD, duchene / becker muscular dystrophy, lesch nyhan syndrome, red green color blindeness
X linked dominant: vit d resistant rickets, alport, fragile X
Y linked: hairy pinna
3
Q
Genetic disease review
A
From p37-46
