Behavior, brain, and genome in genomic disorders

Within the last decade or so, there has been an acceleration of research attempting to connect specific genetic lesions to the patterns of brain structure and activation. This article comments on observations that have been made based on these recent data and discusses their importance for the field of investigations into developmental disorders. In making these observations, the authors focus on one specific genomic lesion, the well-studied, yet still incompletely understood, 22q11.2 deletion syndrome. The authors demonstrate the degree of variability in the phenotype that occurs at both the brain and behavioral levels of genomic disorders and describe how this variability is, on close inspection, represented at the genomic level. The authors emphasize the importance of combining genetic/genomic analyses and neuroimaging for research and for future clinical diagnostic purposes and for the purposes of developing individualized, patient-tailored treatment and remediation approaches.