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Nature Genetics 40, 6–7 (1 January 2008) | doi:10.1038/ng0108-6
Genomic rearrangements in the spotlight
Abstract
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. Estimates of the incidence of specific microdeletions or microduplications have, to date, relied on the identification of individuals having these particular genomic rearrangements. In the case of deletions, where the phenotypic presentation tends to be more uniform and is often associated with key physical, cognitive and behavioral features, clinical diagnosis has been quite successful.
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