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. 2015 Dec 31;98(1):45–57. doi: 10.1016/j.ajhg.2015.11.017

Figure 1.

Figure 1

Maternal Origin of 16p11.2 De Novo CNVs

(A) We assigned SNPs on the unaffected critical region haplotype to either a paternal or maternal haplotype by using B-allele frequency (BAF) data. Informative or partially informative markers for parent of origin are shown.

(B) LogR (lines) and BAF (dots) plots for all de novo deletion and duplication categories. Colors correspond to the inferred parent of origin of the 16p11.2 CNV from each type of SNP marker highlighted in (A). Green bars indicate the location of segmental duplications associated with BP4 and BP5—collapsed here for ease of display.

(C) Approximately 90% of de novo 16p11.2 deletions and duplications originate on the maternal haplotype, a significant maternal bias (p = 2.38 × 10−11 deletions, 3.42 × 10−3 duplications, two-sided binomial test). Such a bias was not observed for inherited 16p11.2 CNVs.