Angelman Syndrome

The main characteristics of Angelman Syndrome are:

• Severe learning difficulties
• Epilepsy
• Unsteadiness
• Severe speech problems
• Small head growth

• Episodes of unprovoked laughing and crying

Genetic Causes

75% have a deletion of chromosome 15 (a spontaneous deletion on the chromosome from the mother). 7% have paternal UPD 15. A small proportion have mutations in the gene UBE3A and a small number are due to abnormal imprinting problems on chromosome 15.

References

http://www.ncbi.nlm.nih.gov/books/NBK1144/

• Williams, C. A., et al. "Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation." Am.J.Med.Genet. 56.2 (1995): 237-38.
• Williams, C. A., D. J. Driscoll, and A. I. Dagli. "Clinical and genetic aspects of Angelman syndrome." Genet.Med. 12.7 (2010): 385-95.
• Lossie, A. C., et al. "Distinct phenotypes distinguish the molecular classes of Angelman syndrome." J.Med.
• Clayton-Smith, J. and M. E. Pembrey. "Angelman syndrome." J.Med.Genet. 29.6 (1992): 412-15.