title: Interpretation of array comparative genome hybridization data: a major challenge.
abstract: 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.
authors.affiliation: Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: A C J
authors.initials: AC
authors.lastname: Gijsbers
authors.forename: J
authors.initials: J
authors.lastname: Schoumans
authors.forename: C A L
authors.initials: CA
authors.lastname: Ruivenkamp
mesh_terms: D002872:Chromosome Deletion; D058674:Chromosome Duplication; D055028:Comparative Genomic Hybridization / Q000379:methods*; D000013:Congenital Abnormalities / Q000235:genetics; D056915:DNA Copy Number Variations; D003627:Data Interpretation, Statistical; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans