Genetic Abnormalities

Question 1

Additional copies of which chromosome are involved in

1) Patau’s syndrome?
2) Edward syndrome?

Answer 1

1) trisomy 13

2) trisomy 18

Question 2

What mnemonic is used to remember the features of Di George’s syndrome and what does it stand for?

Answer 2

CATCH-22

Congenital heart disease
Abnormal facies 
Thymic aplasia
Cleft palate
Hypocalcaemia
22q deletion