Table 1.
NIPBL copy number variations identified by targeted CGH/whole-genome arrays.
| Patient | Gender | Genotype (NCBI build 37) | Included region | CNV type | Minimum size (kb) |
|---|---|---|---|---|---|
| 1 | Female | chr5:g.(37005025_37005435)_(37007490_37007565)del | Ex 17–18 | Deletion | 2.0 |
| 2 | Male | chr5:g.(36952230_36952266)_(36956007_36956380)del | Ex 2–3 | Deletion | 3.7 |
| 3 | Male | chr5:g.(36993420_36993499)_(36997655_36997816)del | Ex 11 | Deletion | 4.1 |
| 4 | Female | chr5:g.(37061350_37062360)_(37066620_?)del | Ex 46–47 | Deletion | 4.3 |
| 5 | Male | chr5:g.(37061350_37062360)_(37066620_?)del | Ex 46–47 | Deletion | 4.3 |
| arr 5p13.2(37,065,152-37,089,599)x1** | 24.4** | ||||
| 6 | Female | chr5:g.(37044305_37044340)_(37049000_37049158)del | Ex 35–39 | Deletion | 4.7 |
| 7 | Female | chr5:g.(36995835_36995861)_(37004025_37004935)del* | Ex 12–14* | Deletion | 5.0 |
| 8 | Female | chr5:g.(37015062_37015875)_(37021035_37021455)dup | Ex 23–27 | Duplication | 5.2 |
| 9 | Female | chr5:g.(36968915_36969370)_(37004450_37005025)del | Ex 7–16 | Deletion | 35.1 |
| 10 | Female | chr5:g.(36964200_36965948)_(37010235_37010791)del | Ex 7–21 | Deletion | 44.3 |
| 11 | Male | chr5:g.(36997300_36997336)_(37066620_?)del | Ex 12–47 | Deletion | 69.3 |
| arr 5p13.2(36,994,939-37,188,352)x1** | 193.4** | ||||
| 12 | Male | chr5:g.(36900635_36903625)_(36998050_36998150)del | Ex 2–11 | Deletion | 94.4 |
| 13 | Male | chr5:g.(?_36877675)_(37066620_?)del | Whole gene | Deletion | 189.0 |
| arr 5p13.1p13.2(35,232,614-40,365,530)x1** | 5.1 (Mb)** |
*
Deletion in mosaic state.
**
Nomenclature/size based on SNP array results. NIPBL RefSeq NM_133433.