Title |
Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients
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Published in |
Molecular Cytogenetics, March 2016
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DOI | 10.1186/s13039-016-0237-9 |
Pubmed ID | |
Authors |
Adrian Mc Cormack, Karen Claxton, Fern Ashton, Philip Asquith, Edward Atack, Roberto Mazzaschi, Paula Moverley, Rachel O’Connor, Methat Qorri, Karen Sheath, Donald R. Love, Alice M. George |
Abstract |
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. 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. 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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 12 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Unspecified | 3 | 25% |
Other | 2 | 17% |
Student > Bachelor | 2 | 17% |
Lecturer | 1 | 8% |
Professor | 1 | 8% |
Other | 2 | 17% |
Unknown | 1 | 8% |
Readers by discipline | Count | As % |
---|---|---|
Unspecified | 3 | 25% |
Biochemistry, Genetics and Molecular Biology | 2 | 17% |
Agricultural and Biological Sciences | 2 | 17% |
Medicine and Dentistry | 2 | 17% |
Nursing and Health Professions | 1 | 8% |
Other | 1 | 8% |
Unknown | 1 | 8% |