Journal
NATURE GENETICS
Volume 42, Issue 3, Pages 192-193Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng0310-192
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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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