Diseases by Inheritance Pattern Flashcards

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1
Q

Autosomal Recessive? (9)

A
  1. ) PKU
  2. ) ATD
  3. ) Tay-Sachs
  4. ) Sandhoff
  5. ) AB Variant
  6. ) HbC
  7. ) HbSS
  8. ) Friederich Ataxia
  9. ) Gauchers
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2
Q

Autosomal Dominant? (11)

A
  1. ) Osteo imperfecta 1
  2. ) HNPP
  3. ) CMT
  4. ) Achondroplasia
  5. ) Marfans
  6. ) NF
  7. ) Huntingtons
  8. ) Alzheimers
  9. ) PCKD
  10. ) Hyper Chol.
  11. ) Myotonic Dystrophy
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3
Q

X Linked Recessive? (5)
X-Linked Dominant? (1)
Mitochondrial Disease? (4)

A
  1. ) Duschenne
  2. ) Beckers
  3. ) DMD
  4. ) Hemophilia A
  5. ) Fragile X

1.) Fabry’s

  1. ) Keans Saye
  2. ) MERF
  3. ) MELAS
  4. ) Leber Optic Neuropathy
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