Genetics Flashcards
1
Q
Osler-Weber-Rendu syndrome
Hereditary haemorrhagic telangiectasia
A
Autosomal dominant (because structural)
Lots of AVM in multi systems, particularly nasal mucosa, GI tract, skin, brain, lung vessels
Triad of recurrent Epistaxis, telangiectasia, positive family history
2
Q
Down’s syndrome chance with maternal age
A
1/1000 at 30 then just *3 with an increase of every 5 years
So at 35 it is 1/333
at 40 it is 1/111
at 45 it is 1/37
