Table 5.
Details of LOH/AOH detected with known UPD (uniparental disomy) disorder in suspected 22q11.2 microdeletion.
| DBN | Cytoband | Size (mb) | Gene number | UPD disorder | Genes | Remarks (associated CNVs and LOH/AOH) |
|---|---|---|---|---|---|---|
| 17 | 11q13.4-q14.1 | 12.3 | 96 | Dysmorphism and mental retardation | Unknown | One benign (3) CNV of 8 (p23.3-p23.2) Two LOH/AOH of chromosome 11 |
|
| ||||||
| 45 | 14q32.2 | 3.0 | 11 | Kagami-Ogata syndrome/Temple syndrome | DLK1, GTL2, RTL1, and so forth | No CNV No other LOH/AOH |
|
| ||||||
| 75 | 6p22.3-p22.1 | 7.4 | 112 | Diabetes mellitus, transient neonatal, 1 | ZFP57 | No CNV No other LOH/AOH |
| p21.33 p21.32 | ||||||
|
| ||||||
| 83 | 7p12.2-p11.2 | 7.3 | 29 | Silver-Russell syndrome (7p11.2-p13) | GRB10 | One benign (3) CNV (20q13.33) Multiple LOH/AOH of other chromosomes |
|
| ||||||
| 97 | 6q24.2-q25.1 | 8.2 | 49 | Transient neonatal diabetes mellitus and isolated cleft lip and palate | PLAGL1 | Two uncertain (1) CNVs (15q11.2) One likely benign (0) CNV (10q22.3) One LOH/AOH of 16p13.11-p12.3 |
|
| ||||||
| 110 | 7q31.32-q35 | 20 | 167 | Silver-Russell syndrome (7q31-qter) | MEST | One likely benign (3) CNV (15q11.2) Multiple LOH/AOH of chromosome 7 and other chromosomes |
|
| ||||||
| 128 | 11p15.4 | 4.1 | 552 | Beckwith-Wiedemann syndrome | No CNV Multiple LOH/AOH of same/other chromosomes |
|
|
| ||||||
| 220 | 11p15.5-p15.4 | 3.5 | Beckwith-Wiedemann syndrome | CDKN1C | One benign (1) CNV 19p12-p11 Multiple LOH/AOH of other chromosomes |
|
|
| ||||||
| 227a | 15q11.2 q12 | 4.8 | 701 | Prader-Willi/Angelman syndrome | SNRPN, SNORD116, UBE3A | No associated CNVs Multiple LOH/AOH of other chromosomes |
|
| ||||||
| 227b | 11q24.2 q24.3 | 5.9 | 901 | Dysmorphism and mental retardation | Unknown | No associated CNVs Multiple LOH/AOH of other/same chromosomes |
| q25 | ||||||
DBN: database number.