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|dc.identifier.citation||Nature Genetics, 2010; 42(3):203-210||en|
|dc.description.abstract||We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 × 10−5, OR = 6.6). The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease.||en|
|dc.description.statementofresponsibility||Santhosh Girirajan... Eric Haan... Josef Gecz... et al.||en|
|dc.publisher||Nature Publishing Group||en|
|dc.rights||© 2010 Nature America||en|
|dc.subject||Chromosomes, Human, Pair 16; Humans; Chromosome Deletion; Recurrence; Oligonucleotide Array Sequence Analysis; Severity of Illness Index; Case-Control Studies; Pedigree; Family; Developmental Disabilities; Gene Frequency; Phenotype; Polymorphism, Single Nucleotide; Models, Genetic; Adult; Child; Child, Preschool; Infant; Comparative Genomic Hybridization||en|
|dc.title||A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay||en|
|dc.identifier.orcid||Haan, E. [0000-0002-7310-5124]||en|
|dc.identifier.orcid||Gecz, J. [0000-0002-7884-6861]||en|
|Appears in Collections:||Paediatrics publications|
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