Dataset Information

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.

ABSTRACT:

Background

The use of Microarray (array CGH) analysis has become a widely accepted front-line test replacing G banded chromosome studies for patients with an unexplained phenotype. We detail our findings of over 5300 cases.

Results

Of 5369 pre and postnatal samples, copy number variants (CNVs) were detected in 28.3 %, of which ~40 % were deletions and ~60 % were duplications. 96.8 % of cases with a CNV <5 Mb would not have been detected by G banding. At least 4.9 % were determined to meet the minimum criteria for a known syndrome. Chromosome 17 provided the greatest proportion of pathogenic CNVs with 65 % classified as (likely) pathogenic. X chromosome CNVs were the most commonly detected accounting for 4.2 % of cases, 0.7 % of these being classified as cryptic (likely) pathogenic CNVs.

Conclusions

Microarray analysis as a primary testing strategy has led to a significant increase in the detection of CNVs (~29 % overall), with ~9 % carrying pathogenic CNVs and one syndromic case identified per 20 referred patients. We suggest these frequencies are consistent with other heterogeneous studies. Conversely, (likely) pathogenic X chromosome CNVs appear to be greater compared with previous studies.

SUBMITTER: Mc Cormack A

PROVIDER: S-EPMC4815202 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Publications

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.

Mc Cormack Adrian A Claxton Karen K Ashton Fern F Asquith Philip P Atack Edward E Mazzaschi Roberto R Moverley Paula P O'Connor Rachel R Qorri Methat M Sheath Karen K Love Donald R DR George Alice M AM

Molecular cytogenetics 20160331

<h4>Background</h4>The use of Microarray (array CGH) analysis has become a widely accepted front-line test replacing G banded chromosome studies for patients with an unexplained phenotype. We detail our findings of over 5300 cases.<h4>Results</h4>Of 5369 pre and postnatal samples, copy number variants (CNVs) were detected in 28.3 %, of which ~40 % were deletions and ~60 % were duplications. 96.8 % of cases with a CNV <5 Mb would not have been detected by G banding. At least 4.9 % were determined ...[more]

PMID: 27034718

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Dataset Information

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.

Background

Results

Conclusions

Publications

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.

Similar Datasets

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