Genetics Flashcards
1
Q
Ash leaf macule Periungal fibromas ( nails ) Facial angiofibromas Bone cysts Shagreen patches
A
Tuberous sclerosis
2
Q
Genetics in tuberous sclerosis
A
Autosomal dominant
Chromosome 9 and 16
3
Q
Genetics in epidermolysis bullous
A
Can be dominant, recessive etc
Lots of different genes
4
Q
3 types of epidermolysis bullous a
A
Simplex
Junctional
Dystrophic
5
Q
Cafe au lair, neurofibromas
A
Neurofibromatosis type 1
6
Q
Genetics in eczema
A
Filaggrin mutation
Interleukin 4 and 13