Journal article icon

Journal article

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

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.

Actions


Access Document


Publisher copy:
10.1038/ng1853

Authors


Koolen, DA More by this author
Vissers, LE More by this author
de Leeuw, N More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Expand authors...
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

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP