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 |