Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
Charles Lee1, A John Iafrate2 & Arthur R Brothman3
- Charles Lee is in the Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA and the Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA.
- A. John Iafrate is in the Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA and the Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
- Arthur R. Brothman is in the Departments of Pediatrics, Human Genetics and Pathology, University of Utah, Salt Lake City, Utah 84132, USA. e-mail: clee@rics.bwh.harvard.edu
Abstract
The recent appreciation of widespread copy number variation in the genomes of healthy human beings has presented a significant challenge to clinical cytogeneticists who wish to use genome-wide array comparative genomic hybridization (CGH) assays for clinical diagnostic purposes. Clinical cytogeneticists need to differentiate between copy number variants (CNVs) that are likely to be pathogenic and CNVs that are less likely to contribute to an affected individual's clinical presentation. Unfortunately, our knowledge of the phenotypic effects of most CNVs is minimal, leading to the classification of many CNVs as genomic imbalances of unknown clinical significance. This has caused many laboratories to resist the use of higher-resolution genome-wide array CGH assays for clinical purposes. Ironically, the accumulation and annotation of such array CGH data can lead to the rapid identification of pathogenic CNVs and the definition of new genomic syndromes that, in turn, are useful for accurate clinical genetic diagnoses.
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