Table of contents

Copy-number variations

• Original article: A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (17 December, 2011)

  A-M Molin, J Andrieux, D A Koolen, V Malan, M Carella, L Colleaux, V Cormier-Daire, A David, N de Leeuw, B Delobel, B Duban-Bedu, R Fischetto, F Flinter, S Kjaergaard, F Kok, A C Krepischi, C Le Caignec, C Mackie Ogilvie, S Maia, M Mathieu-Dramard, A Munnich, O Palumbo, F Papadia, R Pfundt, W Reardon, A Receveur, M Rio, L Ronsbro Darling, C Rosenberg, J Sá, L Vallee, C Vincent-Delorme, L Zelante, M-L Bondeson, G Annerén
• Original article: Further clinical and molecular delineation of the 15q24 microdeletion syndrome (17 December, 2011)

  Heather C Mefford, Jill A Rosenfeld, Natasha Shur, Anne M Slavotinek, Victoria A Cox, Raoul C Hennekam, Helen V Firth, Lionel Willatt, Patricia Wheeler, Eric M Morrow, Joseph Cook, Rachel Sullivan, Albert Oh, Marie T McDonald, Jonathan Zonana, Kory Keller, Mark C Hannibal, Susie Ball, Jennifer Kussmann, Jerome Gorski, Susan Zelewski, Valerie Banks, Wendy Smith, Rosemarie Smith, Lindsay Paull, Kenneth N Rosenbaum, David J Amor, Joao Silva, Allen Lamb, Evan E Eichler
• Short report:

  Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

  (6 December, 2011)

  Eva Klopocki, Silke Lohan, Sandra C Doelken, Sigmar Stricker, Charlotte W Ockeloen, Renata Soares Thiele de Aguiar, Karina Lezirovitz, Regina Celia Mingroni Netto, Aleksander Jamsheer, Hitesh Shah, Ingo Kurth, Rolf Habenicht, Matthew Warman, Koenraad Devriendt, Ulrike Kordaß, Maja Hempel, Anna Rajab, Outi Mäkitie, Mohammed Naveed, Uppala Radhakrishna, Stylianos E Antonarakis, Denise Horn, Stefan Mundlos