Page 258 - ASHG 2013 Program Guide

POSTER SESSIONS
  245
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3230
T Constitutional 560.49 kb chromosome 2p24.3
duplication including the
MYCN
gene identified by
oligonucleotide and SNP chromosome microarray
analysis in a child with multiple congenital anomalies
and bilateral Wilms tumor.
M. A. Micale, B. Embrey IV, J.
K. Macknis, C. E. Harper, D. J. Aughton.
3231
F Incorporation of flanking p obes reduces
truncation losses for fluo escence in situ hybridization
analysis of recurrent genomic deletions in tumor
sections.
M. Yoshimoto, O. Ludkovski, J. Good, R.
J. Gooding, A. Boag, A. Evans, M. S. Tsao, P. Nuin, J.
McGowan-Jordan, J. A. Squire.
3232
T High resolution genome profiling in Li-Fraumeni
patients without germline mutations in
TP53
gene.
T.
R. Basso, R. A. R. Villacis, M. Pinheiro, M. I. W. Achatz, S.
R. Rogatto.
3233
F A patient with Angelman-like features due to
deletion of chromosome 15q26.1q26.2 encompassing
CHD2
and
RGMA
.
S. Kantarci, J. A. Martinez.
3234
T De novo complex unbalanced chromosome
rearrangement, a case of “constitutional
chromothripsis”.
M. Haddadin, M. ElNaggar, T. Sahoo, R.
Owen, L. M. Bird, L. Ross, S. Wang, L. Hinman, F. Boyar.
3235
F Telomerase gene copy number is increased in
IBD and PSC.
A. Amiel, Y. Sulayev, H. Katz, A. Stein, M.
Liberman, F. Konikof, I. Laish.
3236
T Structural anomalies of the Y chromosome
versus sexual ambiguity or infertility.
I. Ben Hadj Hmida,
S. Dimassi, M. Kammoun, H. Kairi, H. Marmouche, A.
Saad, S. Mougou-Zrelli.
3237
F Molecular diagnosis of deletions and
duplications associated with intellectual disability and
obesity.
C. S. D’Angelo, M. F. M. Santos, C. A. Kim, C. M.
Lourenço, C. P. Koiffmann.
3238
T Mechanisms of concurrent deletions and
duplications at 1p36.
M. Gajecka, J. A. Karolak, J. Shen,
K. Wakui, C. Glotzbach, L. G. Shaffer.
3239
F Unexpected 10.6 Mb 19q13.33q13.43 duplication
due to a de novo translocation: Contribution for
phenotype-genotype correlation.
F. T. Lima, G. M. G.
Carvalheira, S. S. Takeno, M. M. Oliveira, V. F. A. Meloni,
M. I. Melaragno.
3240
T Small supernumerary marker chromosome 17:
Molecular characterisation of a new case and review
of the literature.
J. M. Turbitt, J. Murphy, R. McGowan, P.
Batstone.
3241
F Wolf Hirschhorn syndrome with epibulbar
dermoids in a patient with deletion 4p associated to Xp
duplication.
S. Bragagnolo, M. Colovati, R. S. Guilherme,
M. I. Melaragno, A. B. Perez.
3217
F Designing custom oligo FISH probes for the
detection of chromosomal rearrangements in FFPE
tissues.
A. Bergstrom Lucas, M. Ruvolo, V. Kulkarni, S.
Chen, B. Mullinax, J. Venneri, J. Barboza, S. Happe, S.
Fulmer-Smentek, M. Srinivasan.
3218
T Rearrangement of
MLL
gene (11q23) in pediatric
patients with acute leukemia at Hospital Civil de
Guadalajara “Dr. Juan I. Menchaca”.
H. J. Pimentel-
Gutiérrez, L. Bobadilla-Morales, S. Gallegos-Castorena, B.
Gonza#225;lez-Quezada, F. Sánchez-Zubieta, F. Gálvez-
Gálvez, A. Corona-Rivera.
3219
F A derivative chromosome involving the q
arms of chromosome 1 and 15 is associated with
myeloproliferative neoplasm.
P. Hord, C. McCoin, C.
Curtis, S. Singh.
3220
T Effect of methamidophos on bone marrow cells
of mice in vivo: Micronucleus assay.
I. Aranha.
3221
F Mood disorders associate with a gene-
disrupting chromosomal translocation spanning three
generations.
C. Ernst, F. Jollant, C. Hanscom, M. Stone, I.
Blumenthal, G. Turecki, C. Cruceanu, M. Talkowski.
3222
T Effectiveness of comprehensive cytogenetic
investigations in the diagnosis and genetic counseling
of 8,131 patients.
L. Martelli, J. Huber, S. A. Santos, L. A.
F. Laureano, A. C. Laus, J. A. Squire, E. S. Ramos.
3223
F Characterizing the cytogenetic dose-response
relationship at very low doses of gamma radiation
using structural chromosomal aberrations.
I. Seth, M.
C. Joiner, J. D. Tucker.
3224
T Double Robertsonian translocation in pregnancy
loss.
S. Wenger.
3225
F Detection of interstitial 9q34.2-q34.3 deletion
including the
COL5A1
gene by array-CGH in a
patient with classical Ehlers-Danlos syndrome and
developmental delay.
E. C. Beltran, D. W. Stockton, M.
Hicks, M. Hankerd, D. Schloff, M. Kristofice, S. Ebrahim.
3226
T Use of cytogenetic tools to detect oxidative
damage markers in diabetes mellitus and
cardiomyopathy patients.
R. Saraswathy, C. R. A.
Moses, K. T. Babu.
3227
F Partial trisomy 21 in a patient without the Down
syndrome phenotype.
A. Umrigar, T. J. Chen, F. Tsien.
3228
T Age-related decrease of meiotic cohesins in
human oocytes.
M. Tsutsumi, R. Fujiwara, H. Nishizawa,
H. Kogo, H. Inagaki, T. Ohye, T. Kato, H. Kurahashi.
3229
F Microcephaly and chromosomal abnormalities:
Review of four years study.
M. Kammoun, S. Dimassi,
H. Hannachi, I. Bel hadj Hmida, N. Soyah, H. El Ghzel, A.
Saad, M. Soumaya.