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. 2014 Mar 3;12:19. doi: 10.1186/1477-7827-12-19

Table 2.

aCGH results

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

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.