PMC:4067558 / 46712-48230 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4067558","sourcedb":"PMC","sourceid":"4067558","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4067558","text":"All Pathogenic CNVs Identified in Affected Subjects\nCNVs overlapping genes and loci implicated in ASD and/or ID in 2,446 affected subjects irrespective of ancestry, plus chromosomal abnormalities, other large rare de novo events, and further experimentally validated CNVs \u003c 30 kb. Pathogenic CNVs identified in affected subjects (84 CNVs in 82 probands) were divided into different categories: CNVs disrupting genes implicated in ASD and/or ID, genomic disorders with recurrent breakpoints, genomic disorders with nonrecurrent breakpoints, chromosomal abnormalities, and other rare, large de novo CNVs.\n(A) Pie chart displaying the proportion for each of these categories. The number of events and inheritance are in parentheses.\n(B) Percentage of probands with no ID or with nonsyndromic ASD among carriers of pathogenic CNVs.\n(C) Distribution of de novo and inherited deletions and duplications in all CNVs versus in pathogenic CNVs in affected subjects.\n(D) Size distribution of pathogenic CNVs.\n(E) Gender distribution in all probands (n = 2,446) versus in probands with autosomal pathogenic CNVs (n = 72). Autosomal pathogenic CNVs were partitioned into two categories: highly penetrant CNVs (n = 21) and pathogenic CNVs with variable expressivity and/or incomplete penetrance (n = 48). The male-to-female ratio is shown above each group. The number of affected subjects is shown at the bottom of each bar. The proportion of females was increased among carriers of pathogenic CNVs associated with high penetrance.","divisions":[{"label":"p","span":{"begin":0,"end":51}},{"label":"p","span":{"begin":52,"end":602}},{"label":"p","span":{"begin":603,"end":729}},{"label":"p","span":{"begin":730,"end":827}},{"label":"p","span":{"begin":828,"end":956}},{"label":"p","span":{"begin":957,"end":998}}],"tracks":[]}