INVITED AND SPECIAL SESSIONS
Thursday, October 27
8:00 AM-10:30 AM
Concurrent Platform Sessions I (19-25) Click on abstract number to view full text
SESSION 19 - Clinical Genetics, Malformation and Dysmorphology I: Genotype/Phenotype Correlations
Hall E
Co-Moderators: Katie Clarkson, Greenwood Genetic Center, Columbia, SC; and Marc Williams, IHC Clinical Genetic Institute, Salt Lake City, UT
7/8:00 Effect of mutation type and location on clinical outcome in 1081 Marfan syndrome patients or related phenotypes with FBN1 mutations: an international study. L. Faivre, G. Beroud, A. Child, B. Callewaert, C. Binquet, E. Gautier, E. Arbustini, A. Kiotsekoglou, P. Comeglio, C. Beroud, C. Bonithon, D. Halliday, C. Muti, L. Ades, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau and C. Boileau.
8/8:15 A meta-analysis of FXTAS patients with and without family history of fragile X syndrome: a probable threshold model for the toxicity of CGG repeats. S. Jacquemont, L. Beckett, M. Leehey, F. Tassone, R. Hagerman and P. Hagerman.
9/8:30 FXTAS: a descriptive study of premutation carriers from fragile X families. E. G. Allen, J. Juncos, M. Rusin, G. Novak, L. Shubeck, S. L. Sherman and R. Letz.
10/8:45 Spectrum of CHD7 mutations in 113 patients with CHARGE Syndrome. S. R. Lalani, A. M. Safiullah, S. D. Fernbach, L. M. Molinari, C. Bacino, S. L. Davenport, M. A. Hefner, J. M. Graham, Jr. and J. W. Belmont.
11/9:00 Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. K. Kosaki, M. Aramaki, T. Udaka, R. Koaki, Y. Makita, N. Okamoto, H. Yoshihashi, H. Oki, Y. Fukushima and H. Kawame.
12/9:15 Genotype-phenotype correlations in Rubinstein-Taybi syndrome. E. K. Schorry, M. Keddache, B. Abiramikumar, N. Lanphear, J. Rubinstein and G. A. Grabowski.
13/9:30 Phenotypic characterization of familial oculo-auriculo-vertebral (OAV) spectrum: assessment of 19 additional families. A. E. Beck, L. Hudgins, A. W. Grix, N. H. Robin, E. Chen, L. C. Lazzeroni, H. E. Hoyme and U. Francke.
14/9:45 Array CGH identifies chromosome abnormalities with unexpected clinical variability in contiguous gene syndromes. B. A. Bejjani, B. C. Ballif, C. D. Kashork, E. Rorem, K. Sundin and L. G. Shaffer.
15/10:00 9q34.3 microdeletion syndrome: clinical and genetic insights. S. A. Yatsenko, H. Firth, S. Tomkins, O. Rittinger, E. Lammer, K. S. Lewis, S. W. Cheung, P. Stankiewicz and J. R. Lupski.
16/10:15 Overgrowth in association with chromosomal anomalies. G. S. Ball, R. K. Aldrich, J. Lee, S. Li and K. A. Casas.
