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6 Cards in this Set

  • Front
  • Back
General facts on autosomal dominant disorders
-each generation affected (50% chance of passing it on)
-M=F
-less severe, presents later in life (b/c other good copy makes up for it)
-non or incomplete penetrance
-variable expressivity
-new mutations common
Marfan's Syndrome
-tall, long extremities, hyperextendable joints
-fibrillin mutation (scaffolding for elastin fibers impt in heart, eyes, skeleton)
-cystic medionecrosis of aorta -> aortic dissection, mitral valve prolapse, lens dislocation
Ehlers-Danlos
-hyperextensible skin, bleed easily, hypermobile joints (dislocations)
-type 3 collagen defect (skin, BVs)
-berry aneurysms, aortic dissection
-also types that are autosomal recessive
Familial hypercholesterolemia
-xanthomas (lipid filled macrophages on skin, esp on achilles)
-severe atherosclerosis @ early age, very high blood cholesterol
-more severe if homozygous
-due to decreased or bad LDL Rcs (Apoprotein B100) -> increased LDLs in plasma taken up by macrophages
-early onset MI (teens)
Neurofibromatosis type 1
-von recklinghausen disease (chromosome 17)
-neurofibromas (schwann cell tumors on nerves-bumpy skin)
-cafe-au-lait spots (hyperpigmentation on skin)
-freckles in armpits
-severe cases look like "elephant man"
-most common type of neurofibromatosis
-lisch nodules (pigment spots on iris)
Neurofibromatosis type II
-chromosome 22
-bilateral acoustic neuromas (may cause deafness), juvenile cataracts
-NO lisch nodules