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Updated: Aug 3, 2026
16:37
Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
Published on: August 6, 2008
A cytogeneticist's perspective on genomic microarrays
Lisa G Shaffer1, Bassem A Bejjani
1Health Research and Education Center, Washington State University Spokane, Sacred Heart Medical Center, and Signature Genomic Laboratories, Spokane, Washington, USA. lshaffer@wsu.edu
Human Reproduction Update
|May 14, 2004
Summary
Array comparative genomic hybridization (array CGH) offers a comprehensive, high-resolution method for detecting chromosome abnormalities in newborns. This advanced technique promises to enhance clinical genetics by identifying new genetic syndromes and conditions.
Area of Science:
- Clinical Genetics
- Cytogenetics
- Genomics
Background:
- Cytogenetic imbalance identification is crucial in clinical genetics, with approximately 1 in 154 newborns exhibiting chromosome abnormalities.
- Conventional cytogenetics and fluorescence in situ hybridization (FISH) identify microscopic and submicroscopic chromosomal alterations, respectively.
- Comparative genomic hybridization (CGH) emerged as a method to detect DNA copy differences between genomes.
Purpose of the Study:
- To introduce and highlight the advantages of array comparative genomic hybridization (array CGH) for identifying chromosome imbalance.
- To discuss the potential of array CGH in clinical cytogenetics laboratories for diagnosing genetic conditions.
Main Methods:
- Comparative genomic hybridization (CGH) adapted to microarrays (array CGH) using large insert clones.
- Array CGH analyzes DNA copy differences across the genome at high resolution.
Main Results:
- Array CGH provides comprehensive (genome-wide), high-resolution, sensitive, rapid, and automatable detection of chromosome imbalance.
- It offers significant advantages over conventional cytogenetic and molecular cytogenetic techniques.
Conclusions:
- Array CGH is poised for widespread adoption in clinical cytogenetics laboratories.
- This technology is expected to significantly advance the identification of the chromosomal basis for both new and existing genetic syndromes.
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