Aberrant meiotic recombination can result in disease-causing chromosome microdeletions or microduplications. A new study of several disease-associated recombination hot spots in male germ cells shows that some genomic rearrangements, particularly microduplications, are significantly underdiagnosed.
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Osborne, L. Genomic rearrangements in the spotlight. Nat Genet 40, 6–7 (2008). https://doi.org/10.1038/ng0108-6
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DOI: https://doi.org/10.1038/ng0108-6
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