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- Title
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
- Authors
Koolen, David A; Vissers, Lisenka E L M; Pfundt, Rolph; de Leeuw, Nicole; Knight, Samantha J L; Regan, Regina; Kooy, R Frank; Reyniers, Edwin; Romano, Corrado; Fichera, Marco; Schinzel, Albert; Baumer, Alessandra; Anderlid, Britt-Marie; Schoumans, Jacqueline; Knoers, Nine V; van Kessel, Ad Geurts; Sistermans, Erik A; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A
- Abstract
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. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.
- Publication
Nature genetics, 2006, Vol 38, Issue 9, p999
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1853