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
| Â | 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 | 3.5Â 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 | 2Â 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) | 105Â 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 | + | + | + | + | + | + |