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Molecular Cytogenetics

, 9:29

Clinical genetics


BackgroundThe 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.

ResultsOf 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.

ConclusionsMicroarray 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.

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Autor: Adrian Mc Cormack - Karen Claxton - Fern Ashton - Philip Asquith - Edward Atack - Roberto Mazzaschi - Paula Moverley - Rach

Fuente: https://link.springer.com/

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