Fig_1.tif (1.38 MB)
Representative examples of array comparative genomic hybridization (aCGH) using the NimbleGen 12*135 HX12 array, from: A) first-degree relatives of 22q11DS patients (N = 11), B) 22q11DS participant with typical 3 Mb deletion (N = 37); C) 22q11DS participant with 3 Mb deletion and distal duplication, which includes the TOP3B gene (N = 2); D) 22q11DS participant with 2.8 MB deletion (N = 3); E) 22q11DS participant with 1.5 MB deletion (N = 3); and F) 22q11DS participant with 1.3 MB Deletion (N = 1).
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posted on 2015-07-22, 03:02 authored by Maria Jalbrzikowski, Maria T. Lazaro, Fuying Gao, Alden Huang, Carolyn Chow, Daniel H. Geschwind, Giovanni Coppola, Carrie E. BeardenRepresentative examples of array comparative genomic hybridization (aCGH) using the NimbleGen 12*135 HX12 array, from: A) first-degree relatives of 22q11DS patients (N = 11), B) 22q11DS participant with typical 3 Mb deletion (N = 37); C) 22q11DS participant with 3 Mb deletion and distal duplication, which includes the TOP3B gene (N = 2); D) 22q11DS participant with 2.8 MB deletion (N = 3); E) 22q11DS participant with 1.5 MB deletion (N = 3); and F) 22q11DS participant with 1.3 MB Deletion (N = 1).
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idiopathic psychosisexpression changesantipsychotic medication userisk factors22 q 11.2 Deletion Syndromeresponse pathwaysWGCNA analyseshttranscriptional regulationidiopathic ASD.ConclusionThese findingsFunctional Pathways Relatedbrain tissue22 q 11DS patientsgeneidiopathic schizophrenia22 q 11DSperipheral blooddeletion characteristics22 q 11DS individualspathways dysregulated22 q 11DS carriersmoduleTranscriptome Profiling3 Mb deletiondata mining techniquesdeletion breakpointsdeGenomic Analysesphenotypic variationaCGH arrayspectrum disorderstranscriptional changes
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