Table 1.
Pathogenic imbalances and UCEs
| Case | Imbalance | Chr. | Region | Initial pos.a (Mb) | Final pos.a (Mb) | Size (Kb) | Inheritance | Origin | Ultraconserved elementsb |
|---|---|---|---|---|---|---|---|---|---|
| 3 | Loss | 1 | q24-25 | 167.024 | 172.151 | 5,000 | De novo | Maternal | |
| 15 | Loss | 1 | q44 | 242.638 | 243.791 | 1,153 | De novo | Paternal | uc.45-uc.46 |
| 88 | Gain | 2 | p22.2-23.3 | 24.374 | 37.745 | 13,371 | De novo | Paternal | uc.49 |
| C2 | Loss | 2 | q31 | 177.246 | 180.516 | 3,270 | De novo | Paternal | uc.109 |
| 92 | Loss | 3 | q13.2-13.3 | 113.681 | 116.922 | 3,242 | De novo | Maternal | uc.119-uc.122 |
| C1 | Loss | 3 | q29 | 197.293 | 198.467 | 1,174 | Inherited | Maternal | |
| 18 | Loss | 5 | q14.3 | 86.142 | 90.112 | 3,970 | De novo | Paternal | uc.163-uc.167 |
| 2 | Loss | 6 | q16 | 93.933 | 103.287 | 9,200 | De novo | Paternal | uc.194, uc.195-uc.200, uc.201, uc.202 |
| 7 | Loss | 6 | q16 | 93.930 | 104.244 | 10,314 | De novo | Paternal | uc.194, uc.195-uc.200, uc.201, uc.202 |
| M2 | Loss | 7 | p21.2 | ~19.120 | ~19.700 | ~580 | De novo | n.d. | |
| C4 | Gain | 7 | q11.3 | 73.481 | 74.981 | 1,500 | De novo | n.d. | |
| C3 | Gain | 8 | q12 | 59.536 | 62.526 | 2,990 | De novo | Paternal | uc.239 |
| 78 | Loss | 11 | q13.5 | 75.730 | 83.639 | 7,909 | De novo | Paternal | uc.331 |
| 16 | Loss | 13 | q32 | 93.423 | 98.967 | 5,544 | De novo | Paternal | uc.355, uc.356 |
| C5 | Gain | 14 | q11.2 | 18.832 | 23.660 | 4,828 | De novo | Maternal | |
| 9 | Loss | 15 | q23 | 67.908 | 69.198 | 1,290 | Inherited | Maternal | uc.392 |
| M1 | Loss | 17 | p11.2 | ~18.400 | ~20.200 | ~1,800 | De novo | n.d. | |
| M3 | Loss | 17 | q21.31 | ~41.100 | ~41.600 | ~500 | De novo | n.d. | |
| 63 | Gain | 19 | p13.3 | 1.904 | 6.860 | 4,956 | De novo | Maternal | |
| 10 | Loss | 20 | q12-13.11 | 39.463 | 42.008 | 2,540 | Inherited | Paternal | uc.456 |
| 71 | Gain | 22 | q11 | 17.276 | 19.230 | 1,954 | Inherited | Paternal | uc.457 |
| 41 | Gain | X | p11.23 | 45.063 | 48.922 | 3,859 | De novo | Paternal | |
| 42 | Gain | X | p11.22 | 53.238 | 54.239 | 1,001 | Inherited | Maternal | |
| 14 | Gain | X | q28 | 152.373 | 153.433 | 1,060 | Inherited | Maternal | |
| 54 | Gain | X | q28 | 152.850 | 153.060 | 210 | Inherited | Maternal | |
| 72 | Gain | X | q28 | 152.930 | 153.230 | 300 | De novo | n.d. |
26 pathogenic imbalances detected in our series of patients with idiopathic mental retardation/developmental delay and congenital anomalies.
(a) Position of the first and last altered probes according to hg18 (UCSC)
(b) Nomenclature according to Bejerano et al. (2004). Hyphenation denotes clusters where all the consecutive UCEs are included.