Table 3 Comparison of DS+AVSD significantly associated CNVs from Sailani and co-workers to our current study using NanoString technology
Coordinates (hg19)Sailani p-ValueOur Cohort p-Value
 Probe 2chr21:43,195,101–43,195,1760.0010.812
 Probe 3chr21:43,195,664–43,195,7430.0170.007
 Probe 6chr21:43,198,103–43,198,1730.0360.08
 Probe 1chr21:43,411,026–43,411,1150.0140.366
 Probe 2chr21:43,411,401–43,411,4730.0180.577
 Probe 4chr21:43,412,130–43,412,2190.0010.054
 Probe 5chr21:43,412,564–43,412,6530.0040.387
 Probe 6chr21:43,412,999–43,413,0880.0160.056
 Probe 7chr21:43,413,251–43,413,3400.0080.783
  • We performed NanoString nCounter assays on 46 DS+AVSD cases and 45 DS+NH controls using the same probes used by Sailani et al. (2013) in their CNV replication experiment that included 49 cases and 45 controls. To maintain congruency, we applied their assessment strategy to test for mean differences in normalized count (CN) ratios using a one-sided Mann–Whitney U-test. In CNV1, we detected a significant difference in CN ratios for probe 3 (using Sailani and co-workers’ nomenclature), but did not find this relationship for the other two probes previously found significant by Sailani et al. (2013). In CNV2, two of the six previously significant probes were marginally significant in our experiment. 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.