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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

From: Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

  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 + + + + + +