Trisomy 13 (Patau Syndrome) Flashcards

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1
Q

What is the incidence?

A

1 in 5000-12 000 live births

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2
Q

What are the clinical manifestations?

A
  1. Microcephaly
  2. Cutis aplasia of the scalp
  3. Microphthalmia
  4. Cleft lip and/or palate
  5. Flexed and overlapping fingers
  6. Cardiac malformations
  7. Holoprosencephaly
  8. Omphalocele
  9. Kidney defects
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