Genetics - Patau Syndrome

Question 1

Definition

Answer 1

Trisomy 13
- syndrome varies in severity

Question 2

Clinical features

Answer 2

Dysmorphic features, structural abnormalities:
- Characteristic “rocker bottom feet” = where the soles of the feet are convex (rounded outwards) in shape
- Low birthweight
- Cleft lip and palate
- Small eyes
- Scalp defects
- Polydactyl
- Issues with kidneys, heart and abdominal wall

Question 3

Screening

Answer 3

Combined -> 10-14 weeks
Quadruple test: afPataus
- Everything low other than AFP