Genetics

Question 1

Edwards syndrome genetic profile =

Answer 1

trisomy 18

Question 2

Patau’s syndrome genetic profile

Answer 2

trisomy 13

Question 3

Klinefelters syndrome genetic profile

Answer 3

XXY

Question 4

Turners syndrome genetic profile

Answer 4

XO

Question 5

Clinical features of turners syndrome

Answer 5

Short stature 
Webbed neck 
Wide carrying angle 
Horseshoe kidney 
Coactation of the aorta
Infertility

Question 6

Fragile X clinical features

Answer 6

learning difficulties
large low set ears, long thin face, high arched palate
macroorchidism
hypotonia
autism is more common
mitral valve prolapse

Question 7

Lynch syndrome

Answer 7

AD condition

high risk of colorectal and endometrial carcinoma

Question 8

Familial adenomatous polyposis

Answer 8

mutation of APC gene

leads to 100% colon cancer risk

Colonoscopys every 5 years if genetic status known but no polyps

Question 9

Lynch syndrome

colon cancer surveillance

Answer 9

Colonoscopy every 1-2 years from age 25

Question 10

Philadelphia chromosome present in 95% of those with?

Answer 10

CML

Question 11

Prader-Willi

Answer 11

hypotonia during infancy
dysmorphic features
short stature
hypogonadism and infertility
learning difficulties
childhood obesity
behavioural problems in adolescence

Question 12

Presentation of Hungtingtons disease

Answer 12

Features typical develop after 35 years of age
chorea
personality changes (e.g. irritability, apathy, depression) and intellectual impairment
dystonia
saccadic eye movements

Question 13

When is the heel prick test carried out?

Answer 13

Day 5-9