Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively large (>1 Mb) and often recurrent CNVs. CNVs have also been implicated in the etiology of neuropsychiatric disorders including autism and schizophrenia as well as other common complex diseases. Thus, CNVs have a significant impact on human health and disease. The use of increasingly higher resolution, genomewide analysis has greatly enhanced the detection of genetic variation, including CNVs. Furthermore, the availability of comprehensive genetic variation data from large cohorts of healthy controls has the potential to greatly improve the identification of disease associated genetic variants in patient samples. This review discusses the current knowledge about CNV disorders, including the mechanisms underlying their formation and phenotypic outcomes, and the advantages and limitations of current methods of detection and disease association.
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
A multiplex ligation‑dependent probe amplification‑based next‑generation sequencing approach for the detection of copy number variations in the human genome
REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.
Analysis of copy number variations induced by ultrashort electron beam radiation in human leukocytes in vitro
Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations.
Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports
Immune evasion in HPV- head and neck precancer-cancer transition is driven by an aneuploid switch involving chromosome 9p loss.
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