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Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements
Beverly S Emanuel1, Sulagna C Saitta
1Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Philadelphia 19104-4318, USA. beverly@mail.med.upenn.edu
Nature Reviews. Genetics
|October 19, 2007
Summary
Submicroscopic chromosomal rearrangements causing copy-number changes lead to distinct clinical conditions. Advanced genomic technologies now enable precise identification and diagnosis of these copy-number variations and associated genetic syndromes.
Area of Science:
- Genomics
- Clinical Genetics
- Molecular Biology
Background:
- Submicroscopic chromosomal rearrangements result in copy-number changes, leading to recognizable clinical phenotypes.
- Array comparative genomic hybridization (CGH) technologies have significantly improved the detection sensitivity for copy-number variation.
Purpose of the Study:
- To review genomic disorders mediated by segmental duplications.
- To emphasize the impact of high-throughput detection methods and human genome sequence data on the diagnosis of these disorders.
Main Methods:
- Review of existing literature on genomic disorders.
- Discussion of array comparative genomic hybridization (CGH) platforms (BAC and oligonucleotide-based).
- Integration of genome sequence data and annotation for identifying submicroscopic genomic changes.
Main Results:
- High-throughput detection methods and genome sequence data facilitate the identification of new syndromes associated with submicroscopic genomic changes.
- Characterization of these genomic changes reveals the role of genome architecture in the etiology of clinical disorders.
- Segmental duplications are a key mechanism underlying a group of genomic disorders.
Conclusions:
- Advanced genomic technologies are crucial for dissecting and diagnosing copy-number variation-mediated genomic disorders.
- Understanding genome architecture is vital for elucidating the causes of many clinical conditions.
- The study highlights the progress in identifying and characterizing genetic syndromes linked to submicroscopic genomic alterations.
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