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The University of Southampton
Wessex Imprinting GroupInformation for clinicians

Beckwith Wiedemann Syndrome

The three main characteristics of this condition are:

People may also have:

Genetic Causes

This condition is due to altered expression of imprinted genes on chromosome 11. The most common causes are loss of methylation causing over expression of a growth repressor molecule called CDKN1C (50% of cases), or paternal UPD of chromosome 11 in a proportion of cells (approximately 20%) or too much methylation (hypermethylation) causing over expression of the growth factor IGF2 (approximately 5%). Some cases are inherited through the generations either because of mutations in the gene CDKN1C or chromosome rearrangements involving chromosome 11.


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. 


Useful Links - GeneReviews


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