Angelman Syndrome

Question 1

Which chromosome is involved in Angelman syndrome?

Answer 1

Chromosome 15

Question 2

What are the three explanations for how Angleman syndrome occurs?

Answer 2

• Deletion of maternal chromosome 15
• Paternal uniparental disomy of chromosome 15
• Inactivation of maternal chromosome 15 caused by mutation in the UBE3A

Question 3

If Angelman syndrome develops as a result of UPD, are there two copies of the maternal or paternal chromosome?

Answer 3

Paternal chromosome

Question 4

What ultrasound findings may be associated with angelman?

Answer 4

Cystic hygroma

Question 5

What is the prognosis of Angleman?

Answer 5

• Less excitable with increasing age
• Continued severe speech impairment
• Continued intellectual disability