Genetics

Question 1

What is Pierre-Robin syndrome associated with?

Answer 1

A posterior displacement of the tongue (due to a small tongue) and a cleft palate

Question 2

What are the features of Klinefelter’s syndrome?

Answer 2

Klinefelter’s is the most common cause of male hypogonadism, occurring in 1-2 per 1000 male births. Characterised by:

1. Small firm testes
2. Tall
3. Behavioural problems
4. Delayed speech
5. Gynaecomastia

Question 3

What are the features of fragile X syndrome?

Answer 3

1. CGG trinucleotide repeats 
Affected boys will have:
- Moderate learning difficulties (IQ 50) 
- Macrocephaly 
- Macro-orchidism
- Large ears
- Long face
- Prominent mandible and forehead