Chunk #37 — Results — Analysis of rare transmitted CNVs in the SSC — Rare transmitted X-linked CNVs are equally represented in probands and siblings

Source

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

Embedded

yes

Text

We asked similar questions regarding transmission of rare X-linked CNVs from mothers to male probands and obtained similar results. In a group of 353 male probands and 353 matched male siblings, we found, contrary to expectations, that more siblings carried maternally transmitted rare CNVs than probands (14% probands vs. 18% siblings, OR=0.76, p=0.11), though this difference was not significant. The result did not change when we evaluated the various subcategories of rare X-linked CNVs including exonic, deletions, duplications, size, brain-expressed, or ASD-associated.