The three main characteristics of this condition are:
People may also have:
Increased risk of childhood kidney tumour (Wilms tumour)
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
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/NBK1394/ - GeneReviews