title: Oligonucleotide microarrays in constitutional genetic diagnosis.
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.
authors.affiliation: Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Département de Génétique et Cytogénétique, France.
authors.forename: Boris
authors.initials: B
authors.lastname: Keren
authors.forename: Cedric
authors.initials: C
authors.lastname: Le Caignec
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics; D002648:Child; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping / Q000379:methods; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000191:economics / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*