Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion

1Institute of Pathology, Neuropathology Section, Jena University Hospital, Friedrich-Schiller-University, Jena, 2Institute of Neuropathology, Saarland University, School of Medicine, Homburg/S., Germany, 3Genetic Diagnostic Laboratory, Department of Laboratory Medicine, Children’s Hospital Boston, Waltham, MA, 4Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Georgia Regents University, Augusta, GA, and 5Departments of Obstetrics, Gynecology, and Reproductive Biology and of Pathology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA