Disease Chromosome Flashcards

1
Q

12q24

A

PHENYLKETONURIA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

9q22

A

XERODERMA PIGMENTOSUM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

BETA-GLOBULIN

A

SCA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

7q31.2

A

Cf

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

FGR3

A

ACHONDROPLASIA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

LDLR

A

FAMILIAL

HYPERCHOLESTEROLEMIA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

15q21.1

A

MARFAN SYNDROME

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

DMD

A

DUCHENNE MUSCULAR DYSTROPHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

FACTOR VIII

FACTOR IX

A

HEMOPHILIA A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

FMR1

A

FRAGILE-X SYNDROME

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

HPRT/HGPRT

A

LESCH-NYHAN SYNDROME

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Xp22

A

X-LINKED HYPOPHOSPHATEMIA OR

VITAMIN D RESISTANT RICKET

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

PHEX

A

X-LINKED HYPOPHOSPHATEMIA OR

VITAMIN D RESISTANT RICKET

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

GBM

TYPE 4 COLLAGEN

A

Alport syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

phosphate regulating endopeptidase X-linked

A

X-LINKED HYPOPHOSPHATEMIA OR

VITAMIN D RESISTANT RICKETS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

fragile X messenger ribonucleoprotein

A

Fragile x

17
Q

Hypoxanthine-guanine phosphoribosyltransferase

A

Lesch nyhan

18
Q

Dystrophin

A

DUCHENNE MUSCULAR DYSTROPHY

(DMD)

19
Q

Xeroderma pigmentosum complementation group A

A

Xp