Page 160 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
149
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
966
T Mechanism-based analysis of human cell lines of
Prader-Willi syndrome.
Z. Tang, D. Berlin, M. Wineburg,
A. MacMillan, D. Altamuro, L. Toji, C. Beiswanger, S.
Madore, N. Gerry.
967
W A child with Pitt-Hopkins syndrome and maternal
somatic mosaicism at 18q21.2.
K. Doudney, V. Bickley,
M. Robertson, J. Watt, J. Taylor, A. Kidd, P. George.
968
T Microarray benefits diagnostic pregnancy loss
studies.
D. L. Pickering, B. J. Dave, D. M. Golden, A. A.
Haggerty, D. L. Bishay, R. L. Smith, S. A. Fisher, W. G.
Sanger.
969
W Method comparison study of the Illumina
InfiniumDx CytoSNP-12 assay for the detection of
chromosomal abnormalities in DNA extracted from
peripheral blood.
M. Porter, R. Golshani, J. Fabian, M.
Harris.
970
T A CML case with normal karyotype and positive
BCR/ABL1
fusion.
C. A. Tirado, J. W. Boles, J. Ochoa,
R. Collins.
971
W Computational methods for detecting whole-
genome triploid samples with Agilent CGH
1
SNP
arrays.
A. Vadapalli, B. J. Peter, A. Ashutosh, J. Ghosh,
B. Curry, A. Rajkovic, U. Surti, S. A. Yatsenko.
972
T Genome-wide resolution study of CNV
detection by the CytoScan® HD Cytogenetics
Array through a large-scale experiment.
Y. S. Wang,
A. H. Roter.
973
W A new case of inverted duplication with
terminal deletion of chromosome 12p characterized
by FISH and SNP array analysis.
E. Pipiras,
B. Jeandidier, S. Chantot-Bastaraud, B. Benzacken,
A. Delahaye.
974
T GISH analysis of genome discrimination in two
interspecific hybrid of sweet potato.
Z. Li.
975
W Latest innovations in oligo FISH enable high
resolution detection of chromosomal aberrations.
M. Ruvolo, V. Kulkarni, B. Mullinax, A. Bergstrom Lucas,
P. Tsang, N. Faravashi, A. De Witte, M. Srinivasan,
E. LeProust, S. Fulmer-Smentek.
976
T Deletion 2q24.1q24.2 in a boy with
generalized hypotonia and developmental delay:
Further delineation.
V. del Castillo, E. Yokoyama,
C. Villarroel, J. L. Castrillo, S. Avila, S. Sánchez, B. Molina,
S. Frías.
977
W SNP arrays provide incremental, clinically
significant information for patients undergoing
chromosome microarray testing.
V. Aggarwal,
O. Nahum, B. Marmol, K. Anayane-Yeboa, B. Levy.
978
T Non-mosaic duplication of chromosome
6
p in a child, inherited from his mother
with a mosaic unbalanced der(14)t(6;14)
(6
pter
6
p22.3::14p13
14
qter).
S. M. Bain, J. K.
Nicholl, W. Waters, A. H. Attwood, J. Samuel, T. A.
954
T GLUT1 deficiency and chromosome microarray
analysis.
A. J. Dawson, A. Mhanni, F. Booth, D. Bernier, M.
Tomiuk, J. Hartley, M. Strecker, K. Hovanes.
955
W Clinically relevant mosaic findings in a total of
9,605
patients and parents by using genome-wide
high resolution SNP array analysis in constitutional
diagnosis.
N. de Leeuw, J. Y. Hehir-Kwa, B. H. W. Faas,
T. K. Rinne, M. J. E. Kempers, S. A. de Munnik, N. F.
A. Leijsten, G. C. Machielsen, S. L. J. van Gessel, M.
Wunderink, M. J. G. Banning, R. van Beek, M. del Rosario,
B. B. A. de Vries, D. F. C. M. Smeets, R. Pfundt.
956
T Genomic differences between spontaneously
aborted fetuses and live-born children with 45,X
monosomy.
J. Domínguez Ortiz, L. Torres, S. Sanchez, V.
del Castillo, L. Orosco, A. Carnevale, P. Grether, D. Mayen,
S. Frias.
957
W Characterization of a rare 16.25 Mb duplication
of Xp21.2p22.2.
M. J. Macera, E. Bornstein, V. Aggarwal,
L. Northrop, M. Shirazi, A. Sorbrino, B. Levy, D. Warburton,
V. Jobanputra.
958
T Single nucleotide polymorphism-based
microarray comparison for detection of constitutional
copy number variation and absence of heterozygosity.
H. Mei, S. A. Scott, H. M. Kearney, D. del Gaudio, J. D.
Weisfeld-Adams, M. P. Wasserstein, S. Das, N. Cohen, L.
Edelmann.
959
W Atypical copy number abnormalities in patients
with suggestive phenotype of 22q11.2 deletion
syndrome.
M. C. Molck, T. P. Vieira, I. C. Sgardioli, M.
Simioni, A. C. Xavier, J. Souza, V. L. Gil-da-Silva-Lopes.
960
T Mosaicism in live born and spontaneous
abortions with trisomy 13, 18, 21 and monosomy X.
S. Sánchez, P. Grether, D. G. Mayén, B. Molina, M. J.
Zavaleta, J. Domínguez, R. Meléndez, S. Frias.
961
W Array-CGH analysis in patients with Goldenhar
syndrome.
P. A. C. Santos, E. L. Freitas, H. P. N. Safatle,
C. Rosenberg, I. Ferrari, S. F. Oliveira, J. F. Mazzeu.
962
T Complex rearrangements involving five
chromosomes and at least fourteen breaks.
J. Wang, B.
Huang, R. Habibian, A. Hajianpour.
963
W Trisomy Xp and partial tetrasomy Xq resulted
from gain of a rearranged X chromosome in a female
fetus: Pathogenic or not?
M. Yiu, Z. Qi, A. Ki, K.
Hashimoto, M. Ernster, J. Yu.
964
T A de novo 0.24-Mb microdeletion of 16q24.3
encompassing
ANKRD11
in a patient with KBG
syndrome.
H.-J. Cho, E.-J. Seo, J.-H. Lim, J.-O. Lee, H.-
W. Yoo, C. K. Cheon.
965
W The evaluation of subtelomeric fluorescent
in situ hybridization analysis of idiopathic mental
retardation / multiple congenital anomaly cases.
B.
Durmaz, E. Karaca, A. Durmaz, T. Atik, H. Akin, O. Cogulu,
F. Ozkinay.