Skip to main content

Table 1 Selected predicted best scored CNVs confirmed later as pathogenic changes

From: Multiple samples aCGH analysis for rare CNVs detection

Case Gain/loss Cytoband Size (Mb) Oligo nr. Score ISCA GAD Diagnosis
1 Del 1q43q44 3.3 166 100% 24 Mental retardation
2 Del 3q13.2q13.31 4.5 154 99% 4 2 Autism
3 Del Xp22.12 1.6 100 95% 53 1 Mental retardation
4 Del 17q21.31 0.3 84 96% 23 3 Mental retardation
5 Del 5q14.3q15 5.4 596 95% 5 Mental retardation
6 Del Xq22.1q22.3 5.2 167 91% 51 2 Mental retardation
7 Del 2q37.2q37.3 6.3 736 88% 19 2 Mental retardation
8 Del 15q13.3q14 8 873 87% 2 2 Mental retardation