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Brief Communication

Nature Genetics 38, 999–1001 (1 September 2006) | doi:10.1038/ng1853

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A Koolen , Lisenka E L M Vissers , Rolph Pfundt , Nicole de Leeuw , Samantha JL Knight , Regina Regan , R Frank Kooy , Edwin Reyniers , Corrado Romano , Marco Fichera , Albert Schinzel , Alessandra Baumer , Britt-Marie Anderlid , Jacqueline Schoumans , Nine V Knoers , Ad Geurts van Kessel , Erik A Sistermans , Joris A Veltman , Han G Brunner & Bert B A de Vries

Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face.