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In this study we explored the occurrence of intragenic <jats:italic>NIPBL<\/jats:italic> copy number variations (CNVs) in a cohort of 510 <jats:italic>NIPBL<\/jats:italic> sequence\u2010negative patients with suspected CdLS. Copy number analysis was performed by custom exon\u2010targeted oligonucleotide array\u2010comparative genomic hybridization and\/or MLPA. Whole\u2010genome SNP array was used to further characterize rearrangements extending beyond the <jats:italic>NIPBL<\/jats:italic> gene. We identified <jats:italic>NIPBL<\/jats:italic> CNVs in 13 patients (2.5%) including one intragenic duplication and a deletion in mosaic state. Breakpoint sequences in two patients provided further evidence of a microhomology\u2010mediated replicative mechanism as a potential predominant contributor to CNVs in <jats:italic>NIPBL<\/jats:italic>. Patients for whom clinical information was available share classical CdLS features including craniofacial and limb defects. Our experience in studying the frequency of <jats:italic>NIBPL<\/jats:italic> CNVs in the largest series of patients to date widens the mutational spectrum of <jats:italic>NIPBL<\/jats:italic> and emphasizes the clinical utility of performing <jats:italic>NIPBL<\/jats:italic> deletion\/duplication analysis in patients with CdLS.<\/jats:p>","DOI":"10.1002\/mgg3.48","type":"journal-article","created":{"date-parts":[[2013,11,14]],"date-time":"2013-11-14T08:55:17Z","timestamp":1384419317000},"page":"115-123","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Copy number analysis of <i>NIPBL<\/i> in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion"],"prefix":"10.1002","volume":"2","author":[{"given":"Yu\u2010Wei","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Chicago Chicago 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