Trisomy 13 (Patau Syndrome)

Question 1

What is the incidence?

Answer 1

1 in 5000-12 000 live births

Question 2

What are the clinical manifestations?

Answer 2

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