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Genotype-First Analysis of the 16p11.2 Deletion Defines a New Type of “Autism”

  • Michael H. Duyzend
    Affiliations
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington
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  • Evan E. Eichler
    Correspondence
    Address correspondence to Evan E. Eichler, Ph.D., Howard Hughes Medical Institute, University of Washington School of Medicine, Foege S413C, 3720 15th Avenue NE, Box 355065, Seattle, WA 98195-5065
    Affiliations
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington

    Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington
    Search for articles by this author
      Hanson et al. (
      • Hanson E.
      • Bernier R.
      • Porche K.
      • Jackson F.I.
      • Goin-Kochel R.P.
      • Snyder L.G.
      • et al.
      The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
      ) report one of the most comprehensive neurodevelopmental and psychiatric evaluations of the BP4-BP5 16p11.2 deletion to date. The scope of this study was impressive: 85 carriers compared with 153 noncarriers. Studying the phenotype within the context of the family provided a means for genetically matched comparisons and some control for differences in socioeconomic status. Phenotypic evaluations were performed primarily at three centers with careful attention to standardization and center bias in addition to recognition of the potential issues associated with ascertainment.
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