breast cancer high risk ethinictiy
Jewish
Kartagener syndrome (now Primary ciliary dyskinesia PCD)
bronchiectasis,
sinusitis and
situs inversus
Frontotemporal dementia associated with
Motor neurone disease
Turner’s syndrome (45X)
1/3 will have hypothyriod (Hashimoto)
All metabolic genetic diseases are autosomal recessive
except
FHC
Hypokalaemic periodic paralysis
All structural genetic diseases are autosomal dominant except
Frederick’s ataxia
ataxia telangiectasia