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 J.L. 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

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372 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)999-1001
Number of pages3
JournalNature Genetics
Issue number9
Publication statusPublished - 4 Sept 2006

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