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OS1 Retake > Genetics > Flashcards

Genetics Flashcards

1
Q

DS screening markers

A
  • decreased AFP & conjugated estriol

- increased hCG & inhibin-alpha

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2
Q

Edwards clinical features

A
  1. micrognathia
  2. rocker-bottom feet
  3. overlapping fingers
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3
Q

Patau clinical features

A
  1. micro-ophthalmia
  2. cleft lip & palate
  3. polydactyly
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4
Q

What is XERODERMA PIGMENTOSUM?

A

a congenital defect in DNA repair

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5
Q

What mutation causes Acoustic Neuromas/Cerebellopontine Angle Tumors?

A

mutated merlin mapped CHRM 22q12

*Acoustic neuromas can lead to HEARING LOSS & HEADACHES

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6
Q

Fragile X features

A
  1. 230+ CGG repeats
  2. prominent mandible & ears
  3. Macroorchidism
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OS1 Retake (4 decks)

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