Down's syndrome

Question 1

What is the genetics of down’s syndrome?

Answer 1

Extra chromosome
Trisomy 21
Mosaic down syndrome
Translocation down syndrome

Question 2

What is trisomy 21?

Answer 2

3 copies of chromosome 21 instead of usual two - caused by abnormal cell division during development of egg, sperm or embryo

Question 3

What are the tests for down’s syndrome?

Answer 3

Combined test (10-14wks) - Down’s, Edwards, Patau

If high risk:
Chorionic villus sampling (CVS)
Amniocentesis
Non-invasive prenatal testing (NIPT)

Question 4

What are complications of down’s syndrome?

Answer 4

Glue ear
Cervical spine instability
Constipation
Cataract
Eye infections
Nystagmus
Congenital heart defect
URTIs and chest infections
Obstructive sleep apnoea

Question 5

What are characteristic features of down’s syndrome?

Answer 5

Small nose
Flat nasal brudge
Small midface
Relative macroglossia
Small, low set ears
Brachycephaliy (flat occiput)
Wide hands, short fingers, single palmar crease
5th finger curvature
Wide gap between first and second toes