Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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
Affiliations
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 17q21.31 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.

PubMed Disclaimer

Comment in

Publication types

MeSH terms