Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 16
Volume 16, Issue -, Pages 309-326Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-090413-025346
Keywords
cytogenetics; chromosomal microarray; copy-number variant; deletion; duplication; karyotype; G-banding
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Funding
- NHGRI NIH HHS [HG006834] Funding Source: Medline
- NIMH NIH HHS [MH074090] Funding Source: Medline
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [U41HG006834] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH074090] Funding Source: NIH RePORTER
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Since the inception of clinical cytogenetics in the late 1950s, the field has witnessed the evolution of multiple methodologies for the evaluation of chromosomal imbalances and rearrangements. From the replacement of solidly stained chromosomes by Giemsa banding (G-banding) to in situ hybridization and microarrays, each technique has sought to detect smaller and smaller chromosomal aberrations across the genome. Microarray analysis has revealed that copy-number variants-a class of mutation resulting from the loss (deletion) or gain (duplication) of genomic material that is > 1 kb in size-are among the significant contributors to human disease and normal variation. Here, we evaluate the history and utility of various methodologies and their impact on the current practice of clinical cytogenetics.
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