Chunk #30 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Genotype-phenotype analyses of probands carrying 16p11.2 and 7q11.23 CNVs

Source

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

Embedded

yes

Text

We next investigate whether individuals with recurrent CNVs at 16p11.2 or 7q11.23 showed distinctive behavioral or cognitive profiles compared with probands who were not carrying rare de novo events. For each proband carrying a de novo CNV at 16p11.2 or 7q11.23, five other probands were selected as controls based on hierarchical matching criteria: first age, then sex, genetic distance, ascertainment site, and whether the sample was from a quartet or trio.