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Table 1 Profile of pathogenic copy number losses and gains in chromosome 9

From: Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Type or gene involved

Number

Mean, kb

Range, kb

Copy number losses : large

 Interstitial deletion

18

5,070

1,048–16,837

 Terminal deletion

14

5,273

1,218–13,593

 Unbalanced translocation

15

7,053

880–17,107

 Subtotal

47

 

Copy number losses: small

DOCK8

24

299

97–431

KANK1

3

369

184–670

DOCK8 and KANK1

3

419

75–676

EHMT1

16

417

22–790

ASTN2

4

150

78–271

FREM1

2

369

166–573

STXBP1

1

592

NA

COL5A1

1

370

NA

GLDC

1

50

25–75

TOPORS

1

337

NA

CDK5RAP2

1

74

NA

Subtotal

57

 

Large copy number gains

 Trisomy 9p/proximal 9q

15

45,996

13,826–95,453

 9q duplications

6

12,172

6,277–18,399

 Unbalanced translocation

4

25,717

6,794–68,089

 Tetrasomy 9q and proximal 9q due to isochromosome

3

66,477

49,843–81,113

 Trisomy 9

2

140,833

NA

 Triplication

1

15,972

NA

 Subtotal

31

 

Complex chromosomal rearrangements (CCRs)

 Inverted duplication with terminal deletion of 9p

3

Deletion: 6,377; Duplication: 32,271

 Inverted duplication with terminal deletion of 9q

1

Deletion: 161; Duplication: 3,127

 Multiple deletion and duplication

2

Losses: 1091; Gains: 12,517

 Chromothripsis

1

Loss: 134; Gains: 21,094

 Subtotal

7

 

 Total

142

 
  1. NA not applicable