Concurrent Sessions

Monday, May 7, 2006, 15.00 - 16.30 hrs - Forum

C06 Clinical genetics II

C34. Genotype- Phenotype correlation in Patients with Short stature: Clinical indicators of SHOX Haploinsufficiency
G. Rappold¹, W. F. Blum², B. J. Crowe³, R. Roeth¹, E. P. Shavrikova⁴, C. Quigley³, J. L. Ross⁵, B. Niesler¹;
¹Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany, ²University Children’s Hospital, Giessen, Germany, ³Eli Lilly and Company, Indianapolis, IN, United States, ⁴Pharma Support Inc., St. Petersburg, Russian Federation, ⁵Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States.

C35. PTEN Related Disorders - a national clinical study in the UK
K. L. Lachlan¹, D. J. Bunyan², I. K. Temple^1,3;
¹Wessex Clinical Genetics Service, Southampton, United Kingdom, ²Wessex Regional Genetics Laboratory, Salisbury, United Kingdom, ³Department of Human Genetics, Southampton University, United Kingdom.

C36. Pattern of p63 mutations and their phenotypes in human ectodermal dysplasia syndromes
T. Rinne, B. C. Hamel, R. Meijer, H. Scheffer, H. van Bokhoven, H. G. Brunner;
Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

C37. Haploinsufficiency of the Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome.
T. Kleefstra¹, A. R. Oudakker¹, W. M. Nillesen¹, M. H. A. Ruiterkamp-Versteeg¹, D. A. Koolen¹, A. Magee², G. Gillessen-Kaesbach³, H. van Esch⁴, J. Fryns⁴, B. C. J. Hamel¹, E. A. Sistermans¹, H. G. Brunner¹, B. B. A. de Vries¹, H. van Bokhoven¹;
¹Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands, ²Clinical Genetics, Belfast City Hospital Trust, Belfast, Ireland, ³Institut fur Humangenetik, Universitaet Essen, Germany, ⁴Center for Human Genetics, University Hospital Leuven, Belgium.

C38. Duplications of the MECP2 region are commonly found in a specific subset of MR patients; towards a detailed genotype-phenotype correlation
M. Bauters¹, H. Van Esch², M. Friez³, O. Boespflug-Tanguy⁴, M. Raynaud⁵, A. M. Vianna-Morgante⁶, J. Ignatius⁷, M. Zenker⁸, K. Vandenreijt¹, P. Blanc⁴, C. Moraine⁵, R. Stevenson³, P. Marynen¹, J. Fryns², C. Schwartz³, G. Froyen¹;
¹Flanders Interuniversity Institute for Biotechnology, Leuven, Belgium, ²University Hospital Gasthuisberg, Leuven, Belgium, ³JC Self Research Institute of Human Genetics, Greenwood, SC, United States, ⁴Centre Hospitalier Universitaire, Clermont-FD, France, ⁵Centre Hospitalier Universitaire de Tours, Tours, France, ⁶Dept. Genetics and Evolutionary Biology, Institute of Biosciences, Sao Paulo, Brazil, ⁷Oulu University Hospital, Oulu, Finland, ⁸University of Erlangen-Nuremberg, Erlangen, Germany.

C39. Glyc-O-Genetics of Walker-Warburg Syndrome and related disorders
J. van Reeuwijk¹, S. Maugenre², C. van den Elzen¹, A. Verrips³, E. Bertini⁴, F. Muntoni⁵, L. Merlini⁶, H. Scheffer¹, H. G. Brunner¹, P. Guicheney², H. van Bokhoven¹;
¹Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, ²Université Pierre et Marie Curie, Paris, France, ³University Medical Center, Utrecht, The Netherlands, ⁴Bambino Gesu’ Children’s Research Hospital, Rome, Italy, ⁵Hammersmith Hospital Campus, London, United Kingdom, ⁶Università di Ferrara, Ferrara, Italy.