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.

Martínez et al. BMC Medical Genomics 2010 3:54   doi:10.1186/1755-8794-3-54

Open Data