1
Q
Prader Willi Syndrome
A
Sporadic Loss of paternal copy of chromosome 15q11
2
Q
What is Friedrichs Ataxia?
A
Autosomal recessive ataxia by GAA trinucleotide repeat expansion. Presents with ataxia, scoliosis, dysarthria, endocrinopathy and cardiomyopathy.
3
Q
What is Di George Syndrome?
A
Autosomal dominant condition from 22q deletion summarised by CATCH 22 mnemonic
Cardiac abnormalities Abnormal facies Thymic hypoplasia Cleft palate Hypoparathyroidism 22q deletion
4
Q
NF 1 genetics
A
Autosomal dominant disorder of NF1 gene on chromosome 17q
5
Q
Genetics of NF2
A
Autosomal dominant condition of NF2 gene on chromosome 22 - produces Merlin protein
