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Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.

Abstract:

Genome-wide analysis of DNA copy-number changes using microarray-based technologies has enabled the detection of de novo cryptic chromosome imbalances in approximately 10% of individuals with mental retardation. So far, the majority of these submicroscopic microdeletions/duplications appear to be unique, hampering clinical interpretation and genetic counselling. We hypothesised that the genomic regions involved in these de novo submicroscopic aberrations would be candidates for recurrent copy...

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Publisher copy:
10.1038/sj.ejhg.5201975

Authors


Koolen, DA More by this author
Sistermans, EA More by this author
Nilessen, W More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
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Journal:
European journal of human genetics : EJHG
Volume:
16
Issue:
3
Pages:
395-400
Publication date:
2008-03-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:a57388ea-e4dc-464c-a0fb-d6eede684a0d
Source identifiers:
94787
Local pid:
pubs:94787

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