Page 159 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
T Accurate, precise, and tunable cytogenetics with
next-generation sequencing.
M. A. Eberle, T. Royce, F.
Kaper, J. Cottrell, J.-B. Fan.
W Two new cases of interstitial 6q deletion,
associated to microcephaly, corpus callosum
hypoplasia and further brain and cerebellar
V. Parisi, S. Loddo, L. Travaglini, A.
Ferraris, G. Vitiello, G. Zanni, L. Bernardini, M. L. Di
Sabato, M. C. Digilio, A. Novelli, E. Del Giudice, A. Rossi,
E. Bertini, B. Dallapiccola, E. M. Valente.
T Ring chromosome 13: An eventual risk for
intellectual disability, surdity, congenital malformations
and leukemia.
I. Ben-Abdallah-Bouhjar, H. Hannachi, S.
Mougou-Zerelli, H. Ben-Khelifa, A. Labalme, D. Sanlaville,
H. Elghezal, A. Saad.
W Use of oligo-SNP array for the detection of
abnormalities in CLL.
N. C. Christacos, M. L. Slovak, M.
A. Sanidad, Y. Hsu, J. C. Kelly, P. N. Mowrey, D. M. Jones.
T Array-based comparative genomic hybridization
identifies unique copy number alterations in diffuse
large B-cell lymphoma subtypes: A review of published
microarray data.
R. Garcia.
W Subtype of ETV6/ABL1 fusion transcript is
associated with different leukemia phenotype.
A. Kwon,
J. Park, J. Lim, Y. Kim, K. Han, S. Lee, H. Kim, W. Min, J.
Kim, M. Kim.
T Detecting chromosomal inversions using chromatid
painting strategies: Applications.
F. A. Ray, E. Zimmerman,
M. N. Cornforth, E. H. Goodwin, J. S. Bedford, S. M. Bailey.
W Efficacy and implementation of a SNP
microarray for the evaluation of patients with multiple
S. Schwartz, R. D. Burnside, J. McElligott, I.
Gadi, J. Kesler, V. Jaswaney, K. Phillips, J. Tepperberg, B.
Williford, P. Papenhausen.
T A de novo intragenic deletion of
in a
patient with autism spectrum disorder.
S. Kantarci, I. E.
Amarillo, J. David, E. Vilain, X. Li.
W 22 q 11.2 Syndrome in a group of patients who
attended Operation Smile Foundation in Colombia,
between 2005 and 2012.
I. Briceno, J. C. Martinez, A.
Venegas, O. Moreno, M. Sarmiento, S. Bohorquez, M.
Montiel, A. Patino.
T Incidence of mosaicism detected by exon-
targeted, high-resolution array comparative genomic
hybridization in 10,362 consecutive cases with special
emphasis on detection of complex unbalanced structural
W. Bi, J. Pham, C. Shaw, P. Hixson, A.
Ester, A. Pursley, K. Plunkett, P. L. Magoulas, S.-H. L. Kang, S.
R. Lalani, C. Bacino, P. Stankiewicz, A. Patel, S. W. Cheung.
W A cryptic derivative chromosome 12 detected by
oligo-SNP array.
Z. Dai, N. C. Christacos, S. Schonberg,
J. Kelly, E. Wallenhorst, K. Sullivan, C. Adams, Y. Hsu, H.
Walker, T. Simanivanh, P. Mowrey.
cells of mice, in vivo: Micronucleus assay.
I. Aranha.
T Cryptic translocactions of acrocentrics
chromosomes in normal couples and couples with
aneuploid miscarriages.
S. Ramos, O. Castro, B. Molina,
M. Angeles, P. Grether, D. Mayen, S. Frias.
W A comparative cytogenetic resolution analysis
between classic chromosome aberrations and
cytokinesis-block micronucleus cytome assay.
R. Saraswathy.
T In vitro assessment of genotoxicity and
cytotoxicity of methyl mercury chloride.
S. Tayel, M.
Naim Bushra, A. Abd Ruboh, S. Hilal, A. El Agwany.
W The deletion 5q in myelodysplasia: Correlation
of cytogenetic, peripheral blood and bone marrow
V. M. Srivastava, S. Yuvarani, U. Sitaram, A.
Nancy, R. Ahmed, A. Abraham, A. Vishwabandya, B.
George, V. Mathews, A. Srivastava.
T The quality of the bone marrow sample for
successful conventional cytogenetic analysis is
E. Tegg, E. Raik.
W Parental interstitial translocation underlie
deletion in Langer-Giedion syndrome.
B. Min, M. Seo, T.
Cho, W. Park.
T Concurrent deletions and duplications at 1p36.
Gajecka, J. Karolak, J. Shen, C. Glotzbach, L. G. Shaffer.
W Multiple structural abnormalities involving 4q33
in a spontaneous abortion.
M. B. Sheridan, C. Wigner, D.
A. S. Batista, K. Turner, C. DeScipio.
T When transmission modifies the complexity of
familial chromosome rearrangements.
V. Gatinois, G.
Lefort, C. Coubes, J. Puechberty, A. Schneider, S. Taviaux,
M. Tournaire, M. Di Nicola, M. Girard, P. Sarda, F. Pellestor.
W Evidence of a trisomy 9 rescue event in amniotic
L. E. Northrop, M. J. Macera, V. Johbanputra, B.
T Large-scale sequence analysis of translocation
breakpoint junctions.
B. Weckselblatt, M. K. Rudd.
W Analysis of the nucleotide sequence diversity
within the
gene and its pseudogene
as a means to investigate the signature of nonallelic
homologous gene conversion.
T. Mussotter, J. Vogt, K.
Bengesser, J. Högel, D. N. Cooper, H. Kehrer-Sawatzki.
T An examination of the origin of the excess of
males liveborn with trisomy 21.
C. Walker, S. Gandy,
J. Jones, A. Harden, T. Naluai-Cecchini, E. Cheng, S.
Sherman, T. Oliver.
W Down - Turner mosaicism.
L. Martelli, C. G.
Picanço, C. H. P. Grangeiro, C. S. Pereira, R. M. Scaparo,
S. A. Santos, J. Huber, E. S. Ramos.