Syndromes

Question 1

What is Di George syndrome?

Answer 1

A syndrome that occurs on 22q11,2 that presents with cardiac abnormalities, facial abnormalities, hypoparathyroidism and hypoparathyroidsim

Question 2

How many chromosomes does chromosome 22 have on average?

Answer 2

500-800

So if we lose 22q11,2 then we lose about 30-40 genes

Question 3

How do we diagnose Di George syndrome?

Answer 3

We diagnose it using genetic testing FISH

Question 4

What does the pneumonic CATCH 22 mean?

Answer 4

C-cardiac abnormality
A-abnormal facies 
T- thymic hypoplasia 
C-cleft palate 
H-hypocalcaemia 
22

Question 5

What cardiac abnormalities do they present with?

Answer 5

1. Tetralogy of fallot
2. Persistent truncus arterious
3. VSD
4. Interrupted aortic arch

Question 6

What are the facial abnormalities that we can expect?

Answer 6

• cleft palate
• bulbous nose
• low set ears with abnormal folds
• hypertelorism (abnormally large distance between the eyes)

Question 7

What other associations does Di George Syndrome present?

Answer 7

1. Regular infections due to thymic hypoplasia
2. Hypothyroidism and hypoparathyroidism leading to hypocalcalcaemia leading to seizures
3. Irritable bowel syndrome
4. Short stature
5. Mental health issues-schizophrenia