Article
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
The New England journal of medicine - 16 Oct 2008
Mefford Heather C, Sharp Andrew J, Baker Carl, Itsara Andy, Jiang Zhaoshi, Buysse Karen, Huang Shuwen, Maloney Viv K, Crolla John A, Baralle Diana, Collins Amanda, Mercer Catherine, Norga Koen, de Ravel Thomy, Devriendt Koen, Bongers Ernie M H F, de Leeuw Nicole, Reardon William, Gimelli Stefania, Bena Frederique, Hennekam Raoul C, Male Alison, Gaunt Lorraine, Clayton-Smith Jill, Simonic Ingrid, Park Soo Mi, Mehta Sarju G, Nik-Zainal Serena, Woods C Geoffrey, Firth Helen V, Parkin Georgina, Fichera Marco, Reitano Santina, Lo Giudice Mariangela, Li Kelly E, Casuga Iris, Broomer Adam, Conrad Bernard, Schwerzmann Markus, Räber Lorenz, Gallati Sabina, Striano Pasquale, Coppola Antonietta, Tolmie John L, Tobias Edward S, Lilley Chris, Armengol Lluis, Spysschaert Yves, Verloo Patrick, De Coene Anja, Goossens Linde, Mortier Geert, Speleman Frank, van Binsbergen Ellen, Nelen Marcel R, Hochstenbach Ron, Poot Martin, Gallagher Louise, Gill Michael, McClellan Jon, King Mary-Claire, Regan Regina, Skinner Cindy, Stevenson Roger E, Antonarakis Stylianos E, Chen Caifu, Estivill Xavier, Menten Björn, Gimelli Giorgio, Gribble Susan, Schwartz Stuart, Sutcliffe James S, Walsh Tom, Knight Samantha J L, Sebat Jonathan, Romano Corrado, Schwartz Charles E, Veltman Joris A, de Vries Bert B A, Vermeesch Joris R, Barber John C K, Willatt Lionel, Tassabehji May, Eichler Evan E
Abstract excerpt
BACKGROUND: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. METHODS: We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained...
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