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Table 2 aCGH results

From: Rescue karyotyping: a case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue

ID aCGH testing interval (days) DNA input quantity (ng) DNA260/280 DNA conc (Qubit) ng/ul DLRS Sufficiency aCGH results aCGH interpretation
1 13 1000 1.97 161 0.3 HR arr (1-22,X) x2 Euploid female
2 12 1000 1.92 85 0.42 HR arr (1-22,X) x2, gain 70Kb at 1q42.13, loss 230Kb at 3q27.2 Female with unclassified CNV
3 15 500 2.02 28.6 0.47 LR arr (1-22,X) x2 Euploid female
4 13 250 2.03 10.4 0.45 LR arr (1-22,X) x2 Euploid female
5 15 1000 1.99 83 0.67 HR arr (1-22,X)x2, gain 660Kb at 5q13.1, gain 330Kb at 5q32 Female with unclassified CNV
6 13 550 1.91 23 0.33 HR arr mos 7p11.2-q11.23 (55,824,493-75,930,688) x1 Male with mosaic deletion including Williams syndrome chromosome region
7 35 800 2.01 47.8 0.28 HR arr (1-22) x2, (XY) x1 Euploid male
8 14 1000 21.93 446 0.28 HR arr (1-22,X) x2 Euploid female
9 2      I - Insufficient fetal tissue
10 2      I - Insufficient fetal tissue
11 9 220 1.98 26.6 0.71 LR arr (1-12,14-22) x2, mos (13) x3, mos (X) x2, mos (Y) x1 MCC in T13 male v. vanished T13 female twin v. chimeric pregnancy v. true mosaic
12 9 460 1.62 14.9 0.7 LR arr (1-20,22,X) x2 (21) x3 Female with Trisomy 21
13 47 1000 1.9 154 0.26 HR arr (1-22,X) x2 Euploid female
14 27 600 2.01 41.8 0.4 LR arr (1-22,X) x2 Euploid female
15 40 1000 1.91 92 0.34 HR arr18p11.32q23 (1-78847598)x3; Female with Trisomy 18
16 37 1000 2.05 94.2 0.32 HR arr (1-22, X) x2 Euploid female
17 41 300 1.9 15.7 0.31 HR arr 11p11.32q23 (1-135006515)x3 Male with Trisomy 11
18 30   1.99 56.4   I - Insufficient fetal tissue
19 1      I - Insufficient fetal tissue
20 50 750 1.88 48.4 0.44 HR arr4p16.3p15.2 (230836-27342422) x1, arr5q33.2q35.3 (154280916-180674029) x3 Male with unbalanced 4p-5q translocation; known paternal paracentric inversion
  1. Abbreviations: DLRS Distribution of Log2 Ratio Spread, CNV copy number variant, HR high-resolution, LR low-resolution, I insufficient, MCC maternal cell contamination, T13 Trisomy 13.