Table 2 Comparison of DS+AVSD significantly associated CNVs from Sailani and co-workers to our current study
Sailani and Co-workers’ CGH ResultsOur CGH Results
Cases (n = 53)Controls (n = 55)Cases (n = 198)Controls (n = 222)
DS+AVSDDS+NHDS+AVSDDS+NH
Coordinates (hg19)Deletion FrequencyDuplication FrequencyDeletion FrequencyDuplication FrequencyDeletion FrequencyDuplication FrequencyDeletion FrequencyDuplication Frequency
CNV1chr21:43,193,374–43,198,2440.180.07000000
CNV2chr21:43,411,411–43,413,2310.240.1400.11N/AN/AN/AN/A
  • We did not replicate the previously reported significant association of common deletions and duplications at CNV1 in the study by Sailani et al. (2013). Our CGH array did not have at least six probes inside CNV2 and thus was undetectable by our methodology. CGH, comparative genomic hybridization; DS+AVSD, individuals with Down syndrome and complete atrioventricular septal defect; DS+NH, individuals with Down syndrome without a congenital heart defect (i.e., normal heart); CNV, copy number variant; chr21, chromosome 21.