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

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13 August 2006

journal article
research article
Published by Springer Nature in Nature Genetics

Vol. 38 (9) , 999-1001
https://doi.org/10.1038/ng1853

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.

Keywords

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