Angelman Syndrome

Question 1

What causes Angelman Syndrome? Name 2 possible mechanisms.

Answer 1

AngelMAN= LACK MAMMA
Caused by lack of expression of genes from an imprinted region of the maternally inherited chromosome 15q11-13 near the centromere.

Due to:
1. Deletion of the maternally derived chromosome (60%)
2. Paternal uniparental disomy (both copies from father) 2%
Remaining cases have neither of above.

Question 2

Name 5 facial features of Angelman Syndrome

Answer 2

1. Midface hypoplasia
2. Prognathism (protrusion of jaw)
3. Large mouth
4. Protruding tongue
5. Fair hair/skin

Question 3

Name 4 neurologic manifestations of Angelman Syndrome

Answer 3

1. Hypotonia
2. Ataxic gait
3. Jerky arm movements
4. Akinetic/motor seizures common

Question 4

Name 4 cognitive manifestations of Angelman Syndrome

Answer 4

1. Severe intellectual disability
2. Speech impaired or absent
3. Bouts of uncontrollable laughter (happy puppet syndrome)
4. Sleep disturbance

Question 5

Name 3 other features of Angelman Syndrome

Answer 5

1. Short stature
2. Feeding difficulties
3. Hypopigmentation

Question 6

How do you diagnose Angelman Syndrome?

Answer 6

Microarray