SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome
Table 6
Large (>5 mb) UPD/LOH/AOH locus/loci detected in suspected 22q11.2 microdeletion.
DBN
Cytoband
Size (mb)
Gene number
Remarks (associated CNVs and LOH/AOH)
20
6p21.1 p12.3
5.7
38
One uncertain (3) CNV of chromosome 1 (q21.2) Multiple LOH/AOH of chromosomes 6 and 1
43
4q21.23-q22.1
8.7
38
One benign (1) CNV of chromosome 9 (p24.3) One LOH/AOH of chromosome 15
49
Xq21.1 q21.2 q21.31
19
28
Partial tetrasomy of chromosomes 1–8, 11–14, and 18 and partial disomy of chromosome X
q21.32 q21.33 q22.1
Xq27.2 q27.3 q28
6.7
25
Multiple LOH/AOH of chromosome X and one LOH/AOH of chromosome 1
73
2p25.2 p25.1
5.7
33
One likely benign (3) CNV of chromosome 4 (q22.3) Multiple LOH/AOH of many chromosomes
2q21.1-q23.3
18
44
3p21.31-p14.2
13
161
3q21.1-3 q23
16
135
4q31.3-q35.1
32
112
6p21.1 p12.3
5.7
86
9p24.2-p23
8.3
29
10q25.1-q26.11
11.8
60
10q26.11-q26.3
12.8
68
11p15.4-p15.1
11.7
102
14q11.2 q12
8.8
63
14q12-q22.3
23.9
112
15q22.33-q25.2
14.4
155
18p11.31-p11.21
11.9
55
18q11.1-q12.3
22.8
85
76
17q12-q21.1
5.3
102
One benign (1) CNV of chromosome 14 (q11.2) Multiple LOH/AOH of many chromosomes
84
3p21.31-p21.1
7
34
No CNVs; multiple LOH/AOH of many chromosomes
85
8q23.1 q23.2 q23.3
6
14
No CNVs No other LOH/AOH
87
6q21 q22.1 q22.2 q22.31
12
60
No CNVs One LOH/AOH of chromosome 11
101
6q14.1-q15
10.5
51
One benign CNV
105
1q23.1-q31.1
29.5
232
Multiple benign/likely benign CNVs Multiple LOH/AOH of many chromosomes
3q27.1-q29
13.6
108
5q33.3-q35.3
24.7
195
7p14.2 p14.1
5.3
22
10p15.1 p14
5.4
34
16q22.3-q23.3
10
44
17p13.1-p11.2
11.7
124
18q12.1-q12.3
13
46
112
5p15.2 p15.1
7
18
One benign CNV LOH/AOH of chromosome 11 (p11.2 p11.12)
9q31.1-q32
8.3
71
169
1p13.3-p12
9.9
101
2 likely benign CNVs of chromosomes 8 and X Multiple LOH/AOH of many chromosomes
5q35.1-q35.3
8
107
10q11.21 q11.22
5.4
49
10q21.1-q22.1
19
81
10q24.1-q25.2
14
133
12q22-q24.32
34.3
281
14q23.3-q32.2
30.3
231
19q13.32-q13.42
7.2
272
20q13.13-q13.32
8
43
22q11.1-q12.1
11.4
173
Xp22.32-p21.1
27
123
Xq23 q24
9.8
51
178
5p13.3 p13.2
5.8
37
No CNV
17p11.2-q11.2
9.9
125
No other LOH/AOH
182
13q14.2-q21.32
18.6
75
No CNV No other LOH/AOH
6p22.3-p21.33
10.3
269
2q32.3 q33.1
5.2
717
2q34-q36.1
9.6
765
2q36.1-q37.1
7.4
622
7p22.2-p21.3
5.7
49
189
17q21.32-q23.2
13.3
175
No CNV
200
4q32.3-q34.3
9.7
616
No CNV 2 other LOH/AOH
2q11.1-q12.1
8.8
996
2p12-p11.2
8.2
844
2p22.3 p22.2 p22.1
6.1
719
3p26.1 p25.3 p25.2 p25.1
7.8
830
15q23-q24.3
8
1205
204
3q11.2 q12.1 q12.2 q12.3
6
49
One likely benign CNV No other LOH/AOH
16p12.1 p11.2 p11.1
8
107
16q11.2 q12.1 q12.2
7
40
211
5q21.3-q22.3
7.3
30
No CNV
14q22.1-q23.1
7.3
51
One LOH/AOH of chromosome 7
214
18q11.2-q12.1
5.6
29
One likely benign CNV
6p25.2-p24.3
5.5
42
Two LOH/AOH of chromosomes 12 and 19
228
8q24.21 q24.22
5.5
20
No CNV or no other LOH/AOH
To investigate its clinical importance/significance/associations/and so forth there is a need for further study using SNP microarray of parents. DBN: database number.
