Article
Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.
Journal of medical genetics - 1 Sept 2010
Faas B H W, van der Burgt I, Kooper A J A, Pfundt R, Hehir-Kwa J Y, Smits A P T, de Leeuw N
Abstract excerpt
BACKGROUND: The implementation of microarray analysis in prenatal diagnostics is a topic of discussion, as rare copy number variants with unknown/uncertain clinical consequences are likely to be found. The application of targeted microarrays limits such findings, but the potential disadvantage is...
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