Genetic Diseases Flashcards
1
Q
Phenylketonuria
A
AR
2
Q
Huntington’s Disease
A
AD
3
Q
G6PD
A
XLR
4
Q
Incontinentia Pigmenti
A
XLD
5
Q
X-Linked Hypophosphatemia
A
XLD
6
Q
Cystic Fibrosis
A
AR
7
Q
DMD
A
XLR
8
Q
NF-1
A
AD
9
Q
Hemophilia A
A
XLR
10
Q
Familial Cholesterolemia
A
AD
11
Q
Achondroplasia
A
AD
12
Q
Osteogenesis Imperfecta
A
AD
13
Q
FAP
A
AD
14
Q
Beta-Thalassemia
A
AR
15
Q
Sickle Cell Anemia
A
AR
16
Q
CMV Severity
A
Decrease
17
Q
Toxoplasmosis R&S
A
Risk increases
Severity decreases
18
Q
Rubella
A
Risk decreases
Severity decreases
19
Q
Syphilis Risk
A
To spirochete levels; 1/2 >3
20
Q
Varicella Risk
A
v high near delivery, careful live vaccine 3 mths
21
Q
Parovirus B19
A
High risk near start