21 - 130 - HEREDITARY DISORDERS OF GENOME INSTABILITY AND DNA REPAIR

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Answer 1

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Question 16

Complementation groups of XP: MC type in Japan

a. group A
b. group B
c. group C
d. group D

Answer 16

a. group A

Question 17

Complementation groups of XP: Rare type in Japan but MC type in US, Europe and Egypy

a. group A
b. group B
c. group C
d. group D

Answer 17

c. group C

Question 18

Major criteria in Cockayne syndrome, except

a. Developmental delay
b. Progressive growth failure
c. Progressive macrocephaly
d. Progressive microcephaly

Answer 18

c. Progressive macrocephaly

Question 19

Most impt. prognostic factor associated with reduced survival, early onset hearing loss and early onset contractures

a. Cataracts before 2 years old
b. Cataracts before 3 years old
c. Cataracts after 2 years old
d. Cataracts after 3 years old

Answer 19

b. Cataracts before 3 years old

Question 20

Hallmark finding in Rothmund-Thompson syndrome

a. Angiokeratomas
b. Short stature
c. Poikiloderma
d. Photosensitivity

Answer 20

c. Poikiloderma