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Table 1 Summary of findings from array CGH testing, Colombia, 2009–2015

From: CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study

Reports n Diagnostic yield (%)
1374
 Abnormal 488 35.9%
 Normal 886 64%
 Inheritance analysis 76 15% of all abnormal aCGH
  De novo 34 45% of variants assessed for heredity
  Inherited 42 55% of variants assessed for heredity
Molecular anomalies 488 Percentage of total abnormal imbalances
 Deletions
  All chromosomes 246 50.4% of total imbalances
   Autosomes 217 44.4% of total imbalances
   Sex chromosomes 29 5.9% of total imbalances
 Duplications
  All chromosomes 190 39% of total imbalances
   Autosomes 164 33.6% of total imbalances
   Sex chromosomes 26 5.3% of total imbalances)
 Multiple chromosome rearrangements 52 10.0% of total imbalances
Pathogenic imbalances 302 61.8% of all imbalances
 Deletions (all chromosomes) 180 59.6% of pathogenic imbalances
 Duplications (all chromosomes) 74 24.5% of pathogenic imbalances
 Rearrangements 48 15.9% of pathogenic imbalances
Susceptibility loci (carriers) 29 5.94% of total imbalances