Genetics

Question 1

Prader Willi Syndrome

Answer 1

Sporadic Loss of paternal copy of chromosome 15q11

Question 2

What is Friedrichs Ataxia?

Answer 2

Autosomal recessive ataxia by GAA trinucleotide repeat expansion. Presents with ataxia, scoliosis, dysarthria, endocrinopathy and cardiomyopathy.

Question 3

What is Di George Syndrome?

Answer 3

Autosomal dominant condition from 22q deletion summarised by CATCH 22 mnemonic

Cardiac abnormalities 
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypoparathyroidism 
22q deletion

Question 4

NF 1 genetics

Answer 4

Autosomal dominant disorder of NF1 gene on chromosome 17q

Question 5

Genetics of NF2

Answer 5

Autosomal dominant condition of NF2 gene on chromosome 22 - produces Merlin protein