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Chunk #53 — Variable Expressivity of CNV Genotype: Genes Don’t Code for Behavior

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.
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with the association with psychiatric phenotypes (e.g., microduplications of 1q21.1 and 16p11.2), see Table 1. In addition, a recent study of de novo CNVs in ASD has found that de novo CNVs are not a strong predictor of low intelligence quotient (Sanders et al., 2011). These observations suggest that the degree of risk conferred for a psychiatric disorder is related to specific genes within the CNV region and how changes in gene dosage influence neurodevelopment.