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Comparative Study
. 2006 Sep;38(9):999-1001.
doi: 10.1038/ng1853. Epub 2006 Aug 13.

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

David A Koolen  1 , 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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Comparative Study

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

David A Koolen et al. Nat Genet. 2006 Sep.

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 VSports手机版. 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. .

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