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The University of Southampton
Wessex Imprinting GroupInformation for clinicians

Angelmann Syndrome

The main characteristics of Angelman Syndrome are:

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.


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.  

To send with samples

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


SP2 8BJ  ( 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


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. 


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.

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