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.