The main characteristics of Angelman Syndrome are:
Episodes of unprovoked laughing and crying
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.
We would strongly recommend taking blood or DNA from both parents as well as the child, as this will allow us to rapidly establish the inheritance pattern which is particularly important in imprinting disorders. Furthermore it will provide evidence of whether a genetic finding has risen de novo.
When you send us a sample for genetic testing please send us all details on our Testing Criteria form
These include:
Referring clinician details
Patient Details
General Presentation
Current status of Patient
Any other clinical features
Send the sample to:-
Dr Deborah Mackay
Lecturer in Human Genetics
Wessex Imprinting Group
Division of Human Genetics
Wessex Genetics Laboratory
Salisbury Health Care Trust
Salisbury
SP2 8BJ
djgm@soton.ac.uk ( email Deborah to tell her the sample is on route)
tel 01722 425048
And clinical details can be discussed with
Dr Karen Temple
Prof of Medical Genetics
and Honorary Consultant in Clinical Genetics
Academic Unit of Genetic Medicine
Princess Anne Hospital
Coxford Road
Southampton
SO16 5YA
tel 02380 796625
For more information on genetic testing please look at the genetic testing section on this website.
When taking samples you should get written consent for the testing - as with any genetic test.
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.
Genet. 38.12 (2001): 834-45.