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Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples  Karina M. Sørensen,

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Presentation on theme: "Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples  Karina M. Sørensen,"— Presentation transcript:

1 Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples  Karina M. Sørensen, Peter Agergaard, Charlotte Olesen, Paal S. Andersen, Lars A. Larsen, John R. Østergaard, Jan P. Schouten, Michael Christiansen  The Journal of Molecular Diagnostics  Volume 12, Issue 2, Pages (March 2010) DOI: /jmoldx Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 A: A schematic representation of the physical map of chromosome 22q11 showing the locations of MLPA probes (top), LCR22s (black boxes), N25 FISH probe (green star), TUPLE1 FISH probe (hexagon), and the most common 22q11 deletions (red bars). B: An example of a MLPA electropherogram showing reduced signals of 22q11 probes and control fragments: Q-fragments (A), D-fragments (B), Chr. X fragment (C), and 22q11 probe signals (D). The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

3 Figure 2 Graphical view of relative copy number values of all probes from each patient. Blue blocks represent the control group. White blocks represent the patients' control probes, and red blocks represent the patients' deleted probes. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

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