- 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.
- Publisher copy:
- 10.1038/ng1853
-
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- Journal:
- Nature genetics
- Volume:
- 38
- Issue:
- 9
- Pages:
- 999-1001
- Publication date:
- 2006-09-05
- DOI:
- EISSN:
-
1546-1718
- ISSN:
-
1061-4036
- URN:
-
uuid:7a337933-6c62-411d-ad97-794d2199e114
- Source identifiers:
-
94798
- Local pid:
- pubs:94798
- Language:
- English
- Keywords:
- Copyright date:
- 2006
Journal article
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
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