Module 9 Unit 2 Table 9

Question 1

Disorder of gene fragile X mental retardation 2 (Xq28)

Answer 1

Fragile XE

Question 2

GCC

Answer 2

Fragile XE

Question 3

Normal: 6-35
Symptomatic: >200

Answer 3

Fragile X

Question 4

Gene: frataxin, FRDA or X25 (9q13)

Answer 4

Friedrich ataxia

Question 5

GAA

Answer 5

Friedrich ataxia

Question 6

Normal: 7-34
Symptomatic: over 100

Answer 6

Friedrich ataxia

Question 7

Gene: Dystrophia myotonica protein kinase (9q13.2-13.3)

Answer 7

Myotonic dystrophy

Question 8

CTG

Answer 8

Myotonic dystrophy

Question 9

Normal: 5-37
Symptomatic: over 50

Answer 9

Myotonic dystrophy

Question 10

Gene: Spinocerebellar ataxia type 8 (13q21)

Answer 10

Spinocerebellar ataxia type 8

Question 11

Normal: 16-37
Symptomatic: 110-250

Answer 11

Spinocerebellar ataxia type 8

Question 12

Gene: Spinocerebellar ataxia type 12 (Sq31-33)

Answer 12

Spinocerebellar ataxia type 12+

Question 13

CAG

Answer 13

Spinocerebellar ataxia type 12+

Question 14

Normal: 7-28
Symptomatic: 66-78

Answer 14

Spinocerebellar ataxia type 12+

Question 15

Gene: C9 open reading frame 72 (9p21.1)

Answer 15

Amyotrophic lateral sclerosis, frontotemporal disorder

Question 16

GGGGCC

Answer 16

Amyotrophic lateral sclerosis, frontotemporal disorder

Question 17

Normal: 2-20
Symptomatic: >100

Answer 17

Amyotrophic lateral sclerosis, frontotemporal disorder