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Chunk #17 — RESULTS — Frequency of recurrent events

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
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Tables 1 and 2 show the frequencies in the ISCA dataset for 14 CNV regions associated with recurrent deletions and duplications, respectively. It is important to note that many of the recognizable recurrent syndromes may still be tested for by targeted FISH studies, rather than CMA. Since cases ascertained from FISH testing were not included in this study, the frequencies of such syndromes are likely underestimated.