2009
DOI: 10.1016/j.ejmg.2009.03.015
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Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

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Cited by 183 publications
(196 citation statements)
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“…The latter has been a common finding in previous studies of cohorts of MCAMR patients (reviewed in Hochstenbach et al, 2009). 57 Close to one out of five individuals in our study cohort carried gains or losses at recurrent microdeletion/microduplication loci. This indicates that the novel microdeletion/microduplication syndromes are frequently found among CNCs shared by our MCAMR patients and healthy individuals in our study cohort.…”
Section: Discussionmentioning
confidence: 91%
“…The latter has been a common finding in previous studies of cohorts of MCAMR patients (reviewed in Hochstenbach et al, 2009). 57 Close to one out of five individuals in our study cohort carried gains or losses at recurrent microdeletion/microduplication loci. This indicates that the novel microdeletion/microduplication syndromes are frequently found among CNCs shared by our MCAMR patients and healthy individuals in our study cohort.…”
Section: Discussionmentioning
confidence: 91%
“…Current single-gene disorder analyses or chromosomal microarray analyses have a diagnostic rate of ~13-14% in these patient populations, emphasizing the need for new molecular technologies. 26,27 Several previous reports using a trio-based WES strategy in large, specific patient populations reported diagnostic yields of ~25%, with some smaller studies reporting yields of up to 45-55%. 7,20,[28][29][30] The yield in this study is comparable to the 25% from these large patient population yields, and it demonstrates the power of WES to identify the genetic cause of disease in cohorts of intellectually disabled patients.…”
Section: Discussionmentioning
confidence: 99%
“…This diagnostic yield is comparable to previous reports of historical RPC, which often used microarrays to assess these patients, and it is also consistent with the published literature on diagnostic yield in this patient population. 4,5,15 This study was originally designed to meet US Food and Drug Administration requirements and the interpreting cytogeneticist did not have access to any complementary information, as is standard in laboratory analysis (i.e., clinical data or supplementary laboratory testing). To obtain a more realistic view of CytoScan Dx Assay's diagnostic yield, it may be useful to reanalyze this data set with the complete laboratory information available to a qualified cytogeneticist.…”
Section: Discussionmentioning
confidence: 99%