| High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting. | |
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MedLine Citation:
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PMID: 20486943 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Microarray-based comparative genomic hybridization (array-CGH) enables genomewide investigation of copy-number changes at high resolution and has recently been implemented as a clinical diagnostic tool. In this study we evaluate the usefulness of high-resolution arrays as a diagnostic tool in our laboratory and investigate the diagnostic yield in the first 160 patients who were clinically referred for investigation of developmental delay (DD)/multiple congenital anomalies (MCA). During this period both 38K BAC-arrays and 244K oligonucleotide-arrays were used. Copy-number variations (CNVs) not previously reported as normal variants were detected in 22.5% of cases. In 13.1% the aberrations were considered causal to the phenotype and in 9.4% the clinical significance was uncertain. There was no difference in diagnostic yield between patients with mild, moderate or severe DD. Although the effective resolution of the 244K oligonucleotide-arrays was higher than the 38K BAC-array, the diagnostic yield of both platforms was approximately equal and no causal aberrations <300 kb were detected in this patient cohort. We experienced that increasing the resolution of a whole genome screen in the diagnostic setting has its drawback of detecting an increased number of CNVs with uncertain contribution to a phenotype. Based on our experiences, array-CGH is recommended as the first-step analysis in the genetic evaluation of patients with DD and/or MCA. |
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Authors:
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J Wincent; B-M Anderlid; M Lagerberg; M Nordenskjöld; J Schoumans |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical genetics Volume: 79 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-07 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 147-57 Citation Subset: IM |
Copyright Information:
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© 2010 John Wiley & Sons A/S. |
Affiliation:
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Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8:02, Karolinska Institutet, Karolinska University Hospital, Solna, S-171 76 Stockholm, Sweden. Josephine.Wincent@ki.se |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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