Table of contents

Special feature on copy-number variation

• Original article: Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype (22 February, 2011)

  M Balasubramanian, K Smith, L Basel-Vanagaite, M F Feingold, P Brock, G C Gowans, P C Vasudevan, L Cresswell, E J Taylor, C J Harris, N Friedman, R Moran, H Feret, E H Zackai, A Theisen, J A Rosenfeld, M J Parker
• Original article: Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia (27 April, 2011) Free

  Margaret J Wat, Danielle Veenma, Jacob Hogue, Ashley M Holder, Zhiyin Yu, Jeanette J Wat, Neil Hanchard, Oleg A Shchelochkov, Caraciolo J Fernandes, Anthony Johnson, Kevin P Lally, Anne Slavotinek, Olivier Danhaive, Thomas Schaible, Sau Wai Cheung, Katherine A Rauen, Vijay S Tonk, Dick Tibboel, Annelies de Klein, Daryl A Scott
• Short report:

  Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation

  (28 January, 2011)

  Karen Grønskov, Rebecca L Poole, Johanne M D Hahnemann, Jennifer Thomson, Zeynep Tümer, Karen Brøndum-Nielsen, Rinki Murphy, Kirstine Ravn, Linea Melchior, Alma Dedic, Birgitte Dolmer, I Karen Temple, Susanne E Boonen, Deborah J G Mackay
• Short report: A 4.6 kb genomic duplication on 20p12.2–12.3 is associated with brachydactyly type A2 in a Chinese family (26 February, 2011)

  Peiqiang Su, Hongke Ding, Dongsheng Huang, Yan Zhou, Weijun Huang, Liangying Zhong, Tim J Vyse, Yiming Wang
• Original article: Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions (23 March, 2011)

  Ann M Joseph-George, Yongshu He, Christian R Marshall, Raymond C C Wong, Jeffrey R MacDonald, Ciara A Fahey, David Chitayat, Kathy Chun, Greg Ryan, Anne M Summers, Elizabeth J T Winsor, Stephen W Scherer
• Short report: Mosaic trisomy 13: understanding origin using SNP array (19 November, 2010)

  Natini Jinawath, Regina Zambrano, Elizabeth Wohler, Maria K Palmquist, Julie Hoover-Fong, Ada Hamosh, Denise A S Batista