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Frequency of 22q11 deletions in patients with conotruncal defects

Elizabeth Goldmuntz, MD, FACC^a, Bernard J. Clark, MD, FACC^a, Laura E. Mitchell, PhD , Abbas F. Jawad, PhD , Bettina F. Cuneo, MD, FACC^¶, Lori Reed, Donna McDonald-McGinn, Peggy Chien, Jennifer Feuer, Elaine H. Zackai, MD ^||, Beverly S. Emanuel, PhD and Deborah A. Driscoll, MD ^||

^a Division of Cardiology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Division of Biostatistics and Epidemiology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, PA, USA
^|| Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia, PA, USA
^¶ The Heart Institute for Children, Hope Children’s Hospital, Oak Lawn, IL, USA

View larger version (16K): [in a new window]   Figure 1 Idiogram of chromosome 22 illustrating the commonly deleted region (DGCR, hatched box) and the approximate location of the probes used for deletion analysis. Probes for loci D22S75 (N25) and D22S66 (160b) lie within the DGCR. Cos 82 and pH17, the control probes, map to the distal long arm of chromosome 22.