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

From: Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patients

  n %
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)
  1. # Patients may carry more than one pathogenic imbalance.
  2. * This patient carried 5 copies in total of a region of chromosome 7.