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Gijsbers, A.C.J.; Schoumans, J.; Ruivenkamp, C.A.L. (2011)

Interpretation of array comparative genome hybridization data: a major challenge

Article / Letter to editor
The advent and application of high-resolution array-based comparative genome hybridization (array CGH) has led to the detection of large numbers of copy number variants (CNVs) in patients with developmental delay and/or multiple congenital anomalies as well as in healthy individuals. The notion that CNVs are also abundantly present in the normal population challenges the interpretation of the clinical significance of detected CNVs in patients. In this review we will illustrate a general clinical workflow based on our own experience that can be used in routine diagnostics for the interpretation of CNVs.
All authors
Gijsbers, A.C.J.; Schoumans, J.; Ruivenkamp, C.A.L.
Date
2011-12-31
Journal
Cytogenetic and Genome Research
Volume
135
Issue
3-4
Pages
222 - 7
DOI
doi:10.1159/000334066