NAHR-mediated duplications and deletions of 16p13.11 identified in the BB-GRE referral cases.

<p>Abbreviations: Dupl, duplication; Del, deletion.</p>*<p>The sex of one of the cases carrying a duplication of intervals I, II and III was unknown, consequently, we were unable to include him/her in the male or female subgroup.</p

Frequency of phenotypic features in individuals with 16p13.11 duplications and deletions.

<p><b>°</b> This phenotype <b>i</b>ncludes the diagnosis of behavioural problems, ADHD and autism spectrum disorder.</p><p>ADHD was present only in duplication carriers (11.3%), but not in deletion carriers.</p>*<p>Not evaluated in very young cases.</p

NAHR-mediated duplications and deletions of 16p13.11.

<p>NAHR-mediated duplications (blue) and deletions (red) identified in the 16p13.11–p12.3 region (Chr16∶14.66–18.70 Mb, GRCh37/hg19) in cases and controls; case and control IDs refer to <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0061365#pone.0061365.s003" target="_blank">Table S1</a> and <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0061365#pone.0061365.s004" target="_blank">Table S2</a>. Black solid bars indicate the three single copy sequence intervals in the region. Red and blue gene symbols represent ohnologs and other genes respectively. Segmental duplications and low copy repeats (LCRs) in the region are also shown.</p

Ohnologs in the 16p13.11–p12.3 region.

<p>Ohnologs in the 16p13.11–p12.3 region.</p

Frequency of NAHR-mediated 16p13.11 duplications and deletions in BB-GRE cases and controls.

<p>Abbreviations: CNV, copy number variant; OR, odds ratio; CI, confidence interval.</p

Additional file 1: Table S1. of Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Sequencing results of GARNL3 in 192 patients with ID/DD