This page has been established to provide information on clinical research related to 15q13.3 microdeletions. Individuals with a 15q13.3 microdeletion are at increased risk for learning problems, intellectual disability, seizures, autism and behavior problems. Some individuals experience combinations of these features, such as intellectual disability and seizures.
The fact that some individuals with this deletion are completely healthy, whereas others have multiple problems, suggests that the deletion alone does not lead to disease per se, but seems to be a susceptibility factor contributing to the pathogenisis of different conditions affecting the brain.
At the Department of Human Genetics, Radboud university medical centre, we collect clinical data on individuals with 15q13.3 deletions. In addition, we are developing a survey allowing parents to submit clinical data in a systematic way. This information may be used to increase our understanding of the health consequences of 15q13.3 microdeletions and to develop specific management protocols.
The studies will be carried out at the Department of Human Genetics of the Radboud University Medical Centre in The Netherlands and at the Department of Genome Sciences, University of Washington School of Medicine in the USA.