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.
Original language | English |
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Pages (from-to) | 999-1001 |
Number of pages | 3 |
Journal | Nature Genetics |
Volume | 38 |
Issue number | 9 |
DOIs | |
Publication status | Published - Sep 4 2006 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics