Trisomy13/18

Question 1

Name 12 features of Trisomy 13 (Patau Syndrome)

Answer 1

1. Cleft lip
2. Flexed fingers with postaxial polydactyly (extra digits are on 5th digit side)
3. Ocular hypertelorism
4. Bulbous nose
5. Low set ears
6. Microcephaly
7. Cerebral malformation
8. Micropthalmia
9. Cardiac malformations
10. Scalp defects/ 11. Hypoplastic or absent ribs/12. Visceral/genital anomalies

Question 2

What is the prognosis of Patau Syndrome?

Answer 2

Median survival of 7 days, 91% die by 1yo

Question 3

What is the incidence of T13?

Answer 3

1/10,000 Births

Question 4

What is the incidence of T18?

Answer 4

1/6,000

Question 5

Name 10 features of Edward’s Syndrome

Answer 5

1. Low birthweight
2. Closed fists with index finger overlapping 3rd digit and 5th digit overlapping the 4th
3. narrow hips
4. Short sternum
5. Rocker-bottom feet
6. Microcephaly
7. Prominent occiput
8. Micrognathia
9. Cardiac/renal malformations
10. Intellectual disability

Question 6

What is the prognosis of Edward Syndrome?

Answer 6

92% die in first year, with full support 25% can survive 1 year.