Table 1.
Comparison of our findings to that of other authors, particularly, in clinical presentations, deleted cytobands, involved genes, the size of the deleted bands as well as the user workstations
| Our patient | Boland et al. 2007 | Hill et al. 2007 | Van Bon et al. 2008 | Caliebe et al. 2010 | Zaki et al. 2012 | Nagmani et al. 2012 | Thierry et al. 2012 | Ballif et al. 2012 | Parlman et al. 2013 | Sisami et al. 2015 | Hemming et al. 2016 | Raun et al. 2016 | Depienne et al. 2017 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Number of patients | 1 | 6 | 7 | 13 (exclude 2 familial patients) | 4 | 1 | 7 | 11 | 22 | 1 | 1 | 1 | 1 | 17 patients + 37 of previous 1q43q44 deletion |
| Cytoband | 1q43q44 | 1q42q44 | 1q43q44 | 1q43q44 | 1q44 | 1q43q44 | 1q43-q44 | 1q44 | 1q43q44 | 1q44 | 1q43q44 | 1q43-q44 | 1q44 | 1q43q44 |
| Size in Mb | 6.5 | 3.5 Mb | 2 | 0.36 | 0.44 | 10.4 | 1.4 | 0.63 | 2 | 1.47 | 8 | 8 | 4.1 | 1.36 |
| Genomic location (hg19) | 242,664,760-249,206,918 | 243,500,000–244,750,000 | 243,000,000-245,000,000 | 244,533,377-244,833,377 | 244,968,377-245,394,377 | 238,681,384-249,190,989 | 242,987,737-244,331,570 | 244,900,000-245,100,000 | 243,433,377-245,433,377 | 244,125,269-245,594,168 | 241,178,091-249,224,121 | 241,183,190-249,202,755 | 244,842,325-248,938,897 | 243,100,00-244,500,000 |
| SRO in Mb | 6.5 | 1.25 | 2 Mb | 0.36 | 0.44 | 10.4 | 0.8 | 0.188 for seizures and ID | 2 for CCA,MICand SZR | 1.47 | 8 | 8 | 4.1 | 1.36 |
| Platform | Affymetrix HD array CGH, hg19 | aCGH using high resolution BAC-tiling | Microsatellite and SNP | Different Agilant, Affymetrix | Agilent and Illumina | Affymetrix | Custom designed | Agilent. Using custom trgeted Agilent array | Agilent and Roch-NimbleGene | Affymetrix,SNP array 6 | Blue genome array CGH | Infinium Human Cyto SNP (Illumina) | 105 k CMA oligoV7.2 | Different platforms |
| Genomic Build | hg19 | Hg17 | hg17 | hg18 | hg18 | hg18 | hg18 | Hg19 | Hg18 | hg18 | hg19 | hg19 | hg19 | hg19 |
| Involved genes | CEP170, AKT3, ZBTB18, HNRNPU | AKT3,EP171,ZNF238 (ZBTB18) | CEP179, SDCCAG, AKT3 | C1orF100, ADSS, C1orF101, PNAS-14 | FAM36A, HNRPU, EFCAB2, part of KIF2613 | C1or100, ADss, C1orf101, PNAS4 | CEP170, ZNF238, SDCCAG8 | HNRNPU, FAM36A, NCRNA00201 | AKT3, ZNF238, FAM36A, CIORF199, HNRNPU | ZNF238, CEP170 | AKT3, ZNF238, FAM36A, HNRNPU | PLD5, CEP170, SDCCAG8, AKT3, ZNF238, HNPNPU | HNRNPU | AKT3, HNRNPU, ZBTB18 |
| ID | + | 4 are neonates, and 2 + ve | + | 11/11 | + | + | + | + in all patients | + | + | prenatal | + | + | + |
| CCA (agenesis or partial) | + | In 5 patients | 5/7 | 9/11 | 4/4 | + | +in 4 patients | + only in patient 2 | + in 7 patients | + | -ve | + | + | in 7 patients |
| MIC | + | + in 4 patients | 6/7 | 11/11 | + | + | + | + only in patient 1 and 2 | + in 7 patients | -ve | + | + | + | in 49 patients out of 54 |
| seizures | + | In 3 patients | 6/7 | 9/11 | + | + | +in 3 | + in all patients | + in 9 patients | + | prenatal | + | + | in 36patients out of 54 |
| Dysmorphic features | + | In 5 patients | + | + | + | + | + | + in all patients | + | + | + | + | + | + |