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Nat Genet. 2006 Sep;38(9):999-1001. Epub 2006 Aug 13.

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

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  • 1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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.

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PMID:
16906164
[PubMed - indexed for MEDLINE]
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