ABSTRACT
The clinical relevance of copy-number variants (CNVs) depends on its functional impact, having a high probability of a phenotypic effect if the region of imbalance maps critical gene/s or an important regulatory region. The application of array-based comparative genomic hybridization (aCGH) into the clinical practice has introduced a paradigm shift in the diagnostic workup and accelerated the identification of the molecular basis of several genetic diseases. Array CGH has been applied to high-resolution analysis of constitutional abnormalities. The most important benefit of molecular karyotyping in human genetics is its capability to detect submicroscopic CNVs correlated to clinical phenotype in children and adults with normal GTG-banding based karyotype. The aCGH technology was first developed as a research tool for the investigation of genomic alterations in cancer and has proven valuable in the identification of DNA copy number signatures and profiles for different types of tumors.
