Chunk #24 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Genotype-phenotype analyses of probands carrying any rare de novo CNV

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

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Given highly reliable phenotypic data and long standing interest in the role of sex in ASD risk and resilience, we investigated whether males or females carried quantitatively different types of rare de novo events and what impact rare de novo CNVs had on intellectual and social functioning in both groups.