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Wednesday, October 12
4:15
PM
–6:15
PM
Concurrent Platform Session A (10-19)
(SESSION 13, continued)
33
/5:45
Mutations in
ANKRD11
cause KBG
syndrome, a syndrome of intellectual disability,
skeletal malformations and macrodontia.
M. Tekin,
A. Sirmaci, M. Spiliopoulos, F. Brancati, E. Powell, D.
Duman, A. Abrams, G. Bademci, E. Agolini, S. Guo, B.
Konuk, A. Kavaz, S. Blanton, M. C. Digilio, B.
Dallapiccola, J. Young, S. Zuchner.
34
/6:00
De novo nonsense mutations of
ASXL1
cause Bohring-Opitz (Oberklaid-Danks) syndrome.
A. Hoischen, B. W. M. van Bon, B. Rodríguez-
Santiago, C. Gilissen, L. E. L. M. Vissers, P. de Vries, I.
Janssen, B. van Lier, R. Hastings, S. F. Smithson, R.
Newbury-Ecob, S. Kjaergaard, J. Goodship, R.
McGowan, D. Bartholdi, A. Rauch, M. Peippo, J. M.
Cobben, D. Wieczorek, G. Gillessen-Kaesbach, J. A.
Veltman, H. G. Brunner, B. B. B. A. de Vries.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
Wednesday, October 12
4:15
PM
–6:15
PM
Concurrent Platform Session A (10-19
SESSION 14 – Chromosome Organization and Cance
Cytogenetics
Room 520, Level 5, Convention Center
Moderators:
Mary Shago, Hosp. for Sick Children,
Univ. of Toronto, Canada; Marilyn M. Li, Baylor Col.
Med., USA
35
/4:15
Rapid detection of copy number
imbalances and balanced translocations in multi
myeloma by translocation array CGH.
S. A. Morto
R. A. Schultz, M. L. Slovak, L. McDaniel, A. Furrow,
H. Han, J. Fink, U. Surti, N. Berry, K. Fagan, T. C.
Brown, V. Cawich, C. Valentin, S. Minier, N. J. Neill,
Byerly, T. Sahoo, L. G. Shaffer, B. C. Ballif.
36
/4:30
Development and validation of a CGH
microarray for clinical diagnosis of hematologica
malignancies.
S. A. Yatsenko, S. M. Gollin, J. Hu,
Sathanoori, U. Surti, A. Rajkovic.
37
/4:45
Identification of a novel palindrome-
mediated translocation associated with the t(3;8)
hereditary renal cancer.
T. Kato, M. B. Sheridan, A.
M. Hacker, H. Inagaki, T. W. Glover, S. E. Plon, H. A.
Drabkin, R. M. Gemmill, H. Kurahashi, B. S. Emanue
38
/5:00
The ETS gene family members: Relative
positioning in normal human epithelial prostate
cells and induction of nuclear reorganization.
I.
Tereshchenko, A. Vazquez, N. Kane-Goldsmith, D.
Dvorzhinski, S. Huhn, S. Serrano, R. DiPaola, J.
Tischfield.
39
/5:15
Trisomy 21: A disease of chromatin
architecture?
A. Letourneau, S. B. Montgomery, D.
Gonzalez, D. Robyr, C. Borel, E. Migliavacca, Y.
Hibaoui, L. Farinelli, M. Gagnebin, E. Falconnet, S.
Deutsch, S. Dahoun-Hadorn, J.-L. Blouin, A. Feki, R
Guigo, E. T. Dermitzakis, S. E. Antonarakis.
40
/5:30
A model for the formation of 11q segmen
amplifications or hsr based on structure defined
aCGH in leukemia.
K. Reddy.
41
/5:45
Mechanism of recurrent translocation
t(11;22) initiated by cruciform conformation of
palindromic sequences.
H. Inagaki, T. Ohye, H. Ko
M. Tsutsumi, T. Kato, M. Tong, B. S. Emanuel, H.
Kurahashi.
42
/6:00
Ectopic synapsis as a mediator of ectopi
crossing-over: Inferences from genomic disorder
P. Liu, M. Lacaria, F. Zhang, M. Withers, P. J. Hastin
J. R. Lupski.