Duplications of 3q29,15 8p23.121 and 5q3517 have been previously reported in individuals with abnormal phenotypes. In this case-control analysis, these events were identified more often in cases than in controls. However, due to the low frequency of these duplications in the clinically affected population, the differences were not statistically significant. Therefore, as a conservative approach, we would classify these three CNVs as uncertain until larger sample sizes are available. More detailed phenotypic investigations of individuals carrying duplications of 3q29, 8p23.1 and 5q35 in the ISCA cohort and other patient cohorts will help to clarify whether the observed phenotypes are consistent with the previously reported syndromes associated with these duplications.
