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The chromosome 17q21.31 microdeletion syndrome [MIM #610443] is a genomic disorder that is characterized by developmental delay/mental retardation, dysmorphisms, congenital malformations, and behavioral features. The syndrome was identified by three different groups in Cambridge, Seattle and Nijmegen in 2006.

At the Department of Human Genetics, Radboud University Nijmegen Medical Centre and the Department of Genome Sciences, University of Washington, Seattle, we initiated several projects related to the 17q21.31 microdeletion syndrome. The projects have two main goals: The characterization of the clinical spectrum of the 17q21.31 microdeletion syndrome in children and adults and secondarily, to gain more insight in the molecular pathogenesis. A clinical diagnosis and the elucidation of the underlying cause might improve the clinical management of individuals with the syndrome and allows the disclosure of relevant genetic information to family members.                           

David A. Koolen and Bert A. de Vries (Nijmegen, the Netherlands), Evan E. Eichler (Seattle, US).
Questions or enquiries should be directed to David A Koolen. Contact