Genetics

Question 1

Peutz-Jegher’s syndrome

Chromosome

Features + presentation

Answer 1

Chromosome 19, AD

Pigmented buccal lesions and GI polyps

Presents often w obstruction due to intussusception, or abdominal pain, haematochezia, prolapsed polyp

Question 2

Cystic fibrosis mutation

Answer 2

Cystic fibrosis transmembrane conductance regulator gene (AR inheritance)

In the UK 80% of CF cases are due to delta F508 on the long arm of chromosome 7.

Question 3

Ankylosing spondylitis - mutation, sex

Answer 3

HLA-B27 90-95% of cases
Men 3:1

Question 4

Ankylosing spondylitis
Extra-spinal 6 A’s

Answer 4

AVN block
Aortic regurgitation
Amyloidosis
Anterior uveitis
Apical fibrosis
Achilles tendonitis

Question 5

Huntington’s disease
Chromosome, inheritance

Answer 5

Chromosome 4
AD
Trinucleotide repeat disorder

Question 6

Huntingtons presentation

Answer 6

Usually after age 35
Chorea
Personality change, mood disorder
Saccadic eye movement
Dystonia

Question 7

HOCM genetics

Answer 7

AD
contractile protein gene disorder

Question 8

Fragile X

Answer 8

X-linked dominant, variable penetrance
Commonest inherited cause of general learning disability

Question 9

Osler-Weber-Rendu Syndrome AKA
Characterised by

Answer 9

Hereditary haemorrhagic telangiectasia

Autosomal dominant

Frequent epistaxis, telangiectasia, positive family history

Question 10

Hartnup disease
Error
Presentation

Answer 10

Abnormal transport of nuetral amino acids
Pellagra like neurological deficit and dermatitis