Skip to main content

Table 1 Pathogenic imbalances and UCEs

From: Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

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.  
  1. 26 pathogenic imbalances detected in our series of patients with idiopathic mental retardation/developmental delay and congenital anomalies.
  2. (a) Position of the first and last altered probes according to hg18 (UCSC)
  3. (b) Nomenclature according to Bejerano et al. (2004). Hyphenation denotes clusters where all the consecutive UCEs are included.