Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

Details

Serval ID
serval:BIB_7317154D21F3
Type
Article: article from journal or magazin.
Collection
Publications
Title
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.
Journal
European Journal of Human Genetics
Author(s)
Zhang Z.F., Ruivenkamp C., Staaf J., Zhu H., Barbaro M., Petillo D., Khoo S.K., Borg A., Fan Y.S., Schoumans J.
ISSN
1018-4813 (Print)
ISSN-L
1018-4813
Publication state
Published
Issued date
2008
Volume
16
Number
7
Pages
786-792
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
For several decades etiological diagnosis of patients with idiopathic mental retardation (MR) and multiple congenital anomalies (MCA) has relied on chromosome analysis by karyotyping. Conventional karyotyping allows a genome-wide detection of chromosomal abnormalities but has a limited resolution. Recently, array-based comparative genomic hybridization (array CGH) technologies have been developed to evaluate DNA copy-number alterations across the whole-genome at a much higher resolution. It has proven to be an effective tool for detection of submicroscopic chromosome abnormalities causing congenital disorders and has recently been adopted for clinical applications. Here, we investigated four high-density array platforms with a theoretical resolution < or =100 kb: 33K tiling path BAC array, 500K Affymetrix SNP array, 385K NimbleGen oligonucleotide array and 244K Agilent oligonucleotide array for their robustness and implementation in our diagnostic setting. We evaluated the practical performance based on the detection of 10 previously characterized abnormalities whose size ranged from 100 kb to 3 Mb. Furthermore, array data analysis was performed using four computer programs developed for each corresponding platform to test their effective ability of reliable copy-number detection and their user-friendliness. All tested platforms provided sensitive performances, but our experience showed that accurate and user-friendly computer programs are of crucial importance for reliable copy-number detection.
Keywords
Chromosome Aberrations, Chromosomes, Artificial, Bacterial/genetics, Female, Genome, Human/genetics, Humans, Male, Oligonucleotide Array Sequence Analysis/standards, Reproducibility of Results
Pubmed
Web of science
Open Access
Yes
Create date
17/09/2011 10:00
Last modification date
08/05/2019 20:23
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