Genetics Flashcards
genetics of duchenne muscular dystrophy
X linked
Genetics of cystic fibrosis
autosomal recessive
genetics of neyrofibromatosis type 1 (NF1)
autosomal dominant
variable expression and mutations are different in different families
diagnostic criteria for neurofibromatosis type 1
- Cafe au lait spots - 6+
- Axillary freckling
- neuroFibromas - 2+
- eye - lisch nodules (specks in iris)
- skeletal bowing - thinning of long bone cortex
- positive family history
- optic Tumour (glioma)
- need 2+ features
complications of neurofibromatosis type 1
- short stature
- dysmorphic features
- learning difficulties
- epilepsy
- scoliosis
- pseudoarthritis of the tibia
- rasied BP
- neoplasia - optic gliomas and endocrine
why to those with neurofibromatosis have raised BP
due to renal artery stenosis or phaechromocytoma
diagnosis of neurofibromatosis
- BP
- scoliosis of spine
- tibia for unusual angulation
- visual acuity and visual fields
- ## educational assessment
what are the features of neurofibromatosis type 2
- acoustic neuromas (bilateral usually)
- CNS and spinal tumours
- a few cafe au lait spots
classic triad of tuberous sclerosis
- epilepsy
- mental handicap
- skin lesions
genetics of tuberous scerosis
autosomal dominant
variable expression
almost full penetrance
what form of mental handicap is common in tuberous sclerosis
autism
what skin lesions are found with tuberous sclerosis
- depigmented macules
- angiomas
- fibrous plaque forehead
- shagreen patches
- ungual fibromas
kidney features of tuberous sclerosis
cysts and angiomyolipitoma
genetics of myotonic dystrophy
autosomal dominant with anticipation - increasing severity each generation
presentation of myotonic dystrophy
- bilateral late-onset cataract
- muscle weakness, stiffness and myotonia
- low motivation, diabetes mellitus
- heart block
- death post-anaesthetic is a risk
