Oligonucleotide microarrays in constitutional genetic diagnosis. (June 2011)

• Record Type: Journal Article
• Authors: Keren, Boris; Le Caignec, Cedric
• Is Part Of: Expert review of molecular diagnostics. Volume 11:Number 5(2011)
• Page Start: 521
• Page End: 532
• Publication Date: 2011-06
• Subjects: array -- comparative genomic hybridization -- copy number variant -- genetic diagnosis -- genomic imbalance -- mental retardation -- prenatal diagnosis; Molecular diagnosis -- Periodicals; 616.0758205
• DOI: 10.1586/erm.11.32
• Languages: English
• ISSNs: 1473-7159

Abstract

Oligonucleotide microarrays such as comparative genomic hybridization arrays and SNP microarrays enable the identification of genomic imbalances –– also termed copy-number variants –– with increasing resolution. This article will focus on the most significant applications of high-throughput oligonucleotide microarrays, both in genetic diagnosis and research. In genetic diagnosis, the method is becoming a standard tool for investigating patients with unexplained developmental delay/intellectual disability, autism spectrum disorders and/or with multiple congenital anomalies. Oligonucleotide microarray have also been recently applied to the detection of genomic imbalances in prenatal diagnosis either to characterize a chromosomal rearrangement that has previously been identified by standard prenatal karyotyping or to detect a cryptic genomic imbalance in a fetus with ultrasound abnormalities and a normal standard prenatal karyotype. In research, oligonucleotide microarrays have been used for a wide range of applications, such as the identification of new genes responsible for monogenic disorders and the association of a copy-number variant as a predisposing factor to a common disease. Despite its widespread use, the interpretation of results is not always straightforward. We will discuss several unexpected results and ethical issues raised by these new methods.