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

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

doi:10.1056/nejmoa0805384

Public

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

Published in New England Journal of Medicine • Sep 10, 2008

Authors:

Heather C. Mefford

Andrew J. Sharp

Carl Baker

Abstract

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 micro...

Subject

Microcephaly

Gene duplication

Autism

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