down's

Down's Syndrome

Epidemiology

 

Trisomy 21

 

1 in 800

 

Aetiology

 

Advanced maternal age

- 1/ 50 mothers > 45

- however mothers < 30 still most common

 

Genetics

- 95% non disjunction during meiosis

- 4% are result of translocation (Chr 21 joins to Chr 14)

- 1% are mosaics