A new study reports an elevated frequency of second-site genomic alterations among children with severe developmental delay who carry a recurrent microdeletion at chromosome 16p12.1. The work highlights the complex relationship between genotype and phenotype and provides a model to explain the clinical variability associated with this and other common microdeletion syndromes.
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Veltman, J., Brunner, H. Understanding variable expressivity in microdeletion syndromes. Nat Genet 42, 192–193 (2010). https://doi.org/10.1038/ng0310-192
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DOI: https://doi.org/10.1038/ng0310-192
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