Article
Reliable detection of trisomy 21 using MALDI-TOF mass spectrometry.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2006
Huang Dorothy J, Nelson Matthew R, Zimmermann Bernhard, Dudarewicz Lech, Wenzel Friedel, Spiegel Roland, Nagy Balint, Holzgreve Wolfgang, Hahn Sinuhe
Abstract excerpt
PURPOSE: Current diagnostic methods for chromosomal abnormalities rely mainly on karyotyping and occasionally fluorescent in situ hybridization or quantitative polymerase chain reaction. We describe an alternative molecular method for the detection of trisomy 21 involving mass spectrometric analysis of single nucleotide polymorphisms. METHODS: In collaboration with Sequenom, Inc., 350 blinded amniotic fluid,...
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