Original Article

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, M.D., Ph.D., Andrew J. Sharp, Ph.D., Carl Baker, B.S., Andy Itsara, B.A., Zhaoshi Jiang, M.D., Karen Buysse, M.S., Shuwen Huang, Ph.D., Viv K. Maloney, B.Sc., John A. Crolla, Ph.D., Diana Baralle, M.B., B.S., Amanda Collins, B.M., Catherine Mercer, B.M., Koen Norga, M.D., Ph.D., Thomy de Ravel, M.D., Koen Devriendt, M.D., Ph.D., Ernie M.H.F. Bongers, M.D., Ph.D., Nicole de Leeuw, Ph.D., William Reardon, M.D., Stefania Gimelli, Ph.D., Frederique Bena, Ph.D., Raoul C. Hennekam, M.D., Ph.D., Alison Male, M.R.C.P., Lorraine Gaunt, Ph.D., Jill Clayton-Smith, M.D., Ingrid Simonic, Ph.D., Soo Mi Park, M.B., B.S., Ph.D., Sarju G. Mehta, M.D., Serena Nik-Zainal, M.R.C.P., C. Geoffrey Woods, M.D., Helen V. Firth, D.M., Georgina Parkin, B.Sc., Marco Fichera, Ph.D., Santina Reitano, M.D., Mariangela Lo Giudice, B.S., Kelly E. Li, Ph.D., Iris Casuga, B.S., Adam Broomer, M.S., Bernard Conrad, M.D., Markus Schwerzmann, M.D., Lorenz Räber, M.D., Sabina Gallati, Ph.D., Pasquale Striano, M.D., Ph.D., Antonietta Coppola, M.D., John L. Tolmie, F.R.C.P., Edward S. Tobias, F.R.C.P., Chris Lilley, M.R.P.C.H., Lluis Armengol, Ph.D., Yves Spysschaert, M.D., Patrick Verloo, M.D., Anja De Coene, M.D., Linde Goossens, M.D., Geert Mortier, M.D., Ph.D., Frank Speleman, Ph.D., Ellen van Binsbergen, M.Sc., Marcel R. Nelen, Ph.D., Ron Hochstenbach, Ph.D., Martin Poot, Ph.D., Louise Gallagher, M.D., Ph.D., Michael Gill, M.D., Jon McClellan, M.D., Mary-Claire King, Ph.D., Regina Regan, Ph.D., Cindy Skinner, R.N., Roger E. Stevenson, M.D., Stylianos E. Antonarakis, M.D., Ph.D., Caifu Chen, Ph.D., Xavier Estivill, M.D., Ph.D., Björn Menten, Ph.D., Giorgio Gimelli, Ph.D., Susan Gribble, Ph.D., Stuart Schwartz, Ph.D., James S. Sutcliffe, Ph.D., Tom Walsh, Ph.D., Samantha J.L. Knight, Ph.D., Jonathan Sebat, Ph.D., Corrado Romano, M.D., Charles E. Schwartz, Ph.D., Joris A. Veltman, Ph.D., Bert B.A. de Vries, M.D., Ph.D., Joris R. Vermeesch, Ph.D., John C.K. Barber, Ph.D., Lionel Willatt, Ph.D., May Tassabehji, Ph.D., and Evan E. Eichler, Ph.D.

N Engl J Med 2008; 359:1685-1699October 16, 2008