Genetics Flashcards

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1
Q
Ash leaf macule
Periungal fibromas ( nails ) 
Facial angiofibromas 
Bone cysts 
Shagreen patches
A

Tuberous sclerosis

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2
Q

Genetics in tuberous sclerosis

A

Autosomal dominant

Chromosome 9 and 16

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3
Q

Genetics in epidermolysis bullous

A

Can be dominant, recessive etc

Lots of different genes

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4
Q

3 types of epidermolysis bullous a

A

Simplex
Junctional
Dystrophic

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5
Q

Cafe au lair, neurofibromas

A

Neurofibromatosis type 1

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6
Q

Genetics in eczema

A

Filaggrin mutation

Interleukin 4 and 13

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