Article

Analysis of 3832 Patients over 15 Years Confirms Unusual, Genome-Wide Copy Number Variation in Patients with Developmental Disability-Autism

2026-07-29

Abstract excerpt

Chromosome microarray analysis performed on 3,842 patients over 15 years (2009-2024), 92% with developmental disability/autism, yielded a total of 16,138 copy number variants (CNVs) averaging 4.2 per patient and qualified as benign (15,083 or 94%, most of size 11-99 kb), of uncertain significance (VUS, 216 or 1.3%, 0.5-0.75 Mb), or pathogenic (836 or 5.2%, 2-5 Mb). Despite considerable pathogenic-VUS size overlap...

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Literature Corpus work: d865b79a-a19f-53dd-a724-a261be91d0bf
DOI: 10.20944/preprints202607.2100.v1

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