Genetics - Patau Syndrome Flashcards
1
Q
Definition
A
Trisomy 13
- syndrome varies in severity
2
Q
Clinical features
A
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
3
Q
Screening
A
Combined -> 10-14 weeks
4
Q
Tests
A
Non-invasive pre-natal testing -> sample of blood from the mother is taken so the baby’s DNA found within it can be tested
