Table 1 Summary of findings from first line array CGH testing, June 2008 - Sept 2012

TOTAL FIRST LINE PATIENTS

8,794

Abnormal

2,218

25% (of total patients)

Normal

6,576

Completed inheritance studies

1,111

50% (of abnormals)

De novo

226

20% (of completed inheritance)

Inherited

885

80% (of completed inheritance)

TOTAL IMBALANCES ^#

2,596

Deletions / nullisomy (all chromosomes)

1,182

46% (of all imbalances)

Deletions (autosomes)

1,102

42% (of all imbalances)

Nullisomy (autosomes)

8

<1% (of all imbalances)

Deletions / nullisomy (sex chromosomes)

72

3% (of all imbalances)

Duplications (all chromosomes)

1,240

48% (of all imbalances)

Duplications (autosomes)

951

37% (of all imbalances)

Duplications (sex chromosomes)

289

11% (of all imbalances)

Triplications (all chromosomes)

132

5% (of all imbalances)

Triplications (autosomes)

120

5% (of all imbalances)

Triplications (sex chromosomes)

12

<1% (of all imbalances)

Amplifications

1*

<1% (of all imbalances)

Mosaics (all chromosomes)

41

2% (of all imbalances)

x0~1

5

<1% (of all imbalances)

x1~2

19

1% (of all imbalances)

x1~3

2

<1% (of all imbalances)

x2~3

13

1% (of all imbalances)

x2~4

2

<1% (of all imbalances)

Whole chromosome

79

3% (of all imbalances)

Whole chromosome mosaic

19

1% (of all imbalances)

Reduced copy number >=5Mb

74

3% (of all imbalances)

Reduced copy number <5Mb

1,108

43% (of all imbalances)

Increased copy number >=5Mb

86

3% (of all imbalances)

Increased copy number <5Mb

1,153

44% (of all imbalances)

PATHOGENIC IMBALANCES ^#

868

33% (of all imbalances)

Whole chromosome

79

9% (of pathogenic imbalances)

Syndromic imbalances

225

26% (of pathogenic imbalances)

Susceptibility loci

205

24% (of pathogenic imbalances)

Other pathogenic (private mutations)

359

41% (of pathogenic imbalances)