“…Although all the 17 likely pathogenic (LP) CNVs were not found in healthy individuals or in DGV ( http://dgv.tcag.ca/dgv/app/home ). They have been identified in more than one ID patients before ( Mégarbané et al, 2000 ; Rauch et al, 2003 ; Roggenbuck et al, 2004 ; Hellani et al, 2010 ; Dimitrov et al, 2011 ; Melis et al, 2012 ; Rush et al, 2013 ; Castillo et al, 2014 ; Balasubramanian et al, 2016 ; Leffler et al, 2016 ; Zhou et al, 2016 ; Akcakaya et al, 2017 ; Bonati et al, 2019 ; Holder-Espinasse et al, 2019 ; Allach El Khattabi et al, 2020 ). To determine the inheritance pattern, the parental DNA was available from the parent in 21 cases.…”