Table 1.
Genetic abnormalities detected by whole genome CNV + SNP array hybridization
| Chromosome | Type | CN | Cytobands | Size (kbp) | Genes |
|---|---|---|---|---|---|
| 1 |
UPD |
2 |
All |
|
|
| |
Loss |
1 |
q44 |
74.216 |
OR2T2, OR2T3, OR2T5 |
| 2 |
UPD |
2 |
All |
|
|
| 3 |
UPD |
2 |
All |
|
|
| 4 |
UPD |
2 |
All |
|
|
| 5 |
UPD |
2 |
All |
|
|
| 6 |
UPD |
2 |
All |
|
|
| |
Loss |
1 |
p22.1 |
71.464 |
HCG4B, HLA-A |
| |
Loss |
1 |
q22.33 |
189.413 |
TMEM244, L3MBTL3 |
| 7 |
UPD |
2 |
All |
|
|
| |
Loss |
1 |
q22.1 |
181.67 |
SH2B2, SPDYE6, LOC100289561, LOC100630923, PRKRIP1, ORAI2, ALKBH4, LRWD1, MIR5090, MIR4467, POLR2J |
| 8 |
Gain |
4 |
All |
|
|
| |
LOH |
4 |
p12–p11.1 |
11659.74 |
71 genes |
| |
LOH |
4 |
q23.3–q24.3 |
6392.362 |
14 genes |
| |
Loss |
0 |
p11.22 |
139.855 |
ADAM5P, ADAM3A |
| 9 |
UPD |
2 |
All |
|
|
| 10 |
UPD |
2 |
All |
|
|
| 11 |
UPD |
2 |
All |
|
|
| 12 |
Gain |
3 |
All |
|
|
| 13 |
UPD |
2 |
All |
|
|
| 14 |
UPD |
2 |
All |
|
|
| |
Gain |
3 |
q32.33 |
324.063 |
KIAA0125, ADAM6 |
| 15 |
UPD |
2 |
All |
|
|
| |
Loss |
1 |
q24.3 |
40.641 |
SCAPER |
| 16 |
UPD |
2 |
All |
|
|
| 17 |
UPD |
2 |
All |
|
|
| 18 |
UPD |
2 |
All |
|
|
| 19 |
UPD |
2 |
All |
|
|
| |
Loss |
1 |
p12 |
677.28 |
ZNF682, ZNF90, ZNF486, MIR1270-2, MIR1270-1, ZNF826P, ZNF737 |
| |
Loss |
1 |
q13.42 |
107.4 |
KIR2DL3, KIR2DL1, LOC100287534, KIR2DL4, KIR3DL1, KIR2DS4 |
| 20 |
Gain |
4 |
All |
|
|
| 21 |
UPD |
2 |
All |
|
|
| 22 |
UPD |
2 |
All |
|
|
| |
Gain |
3 |
q11.22 |
138.446 |
MIR650, IGLL5 |
| X |
Gain |
4 |
All |
|
|
| |
LOH |
4 |
p11.23–p11.1 |
8936.629 |
88 genes |
| |
LOH |
4 |
q11.1–q13.1 |
5950.032 |
20 genes |
| |
LOH |
4 |
q13.1–q21.1 |
5907.594 |
58 genes |
| |
LOH |
2 |
q27.2–q27.3 |
1422261 |
3 genes |
| LOH | 4 | q27.3–q28 | 10557350 | 90 genes |
Abbreviations: CN, Copy number.