Page 257 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3204
T Molecular cytogenetic analysis of 8p23.1: About
two Tunisian patients.
H. Ben Khelifa, M. Kammoun, I.
Ben Haj Hmida, H. Hannechi, N. Soyah, H. Elghezal, A.
Saad, S. Mougou-Zrelli.
3205
F Silver and titanium dioxide nanoparticles role
in genotoxicity.
A. Ganapathi, L. Koude, V. Mariganti, P.
Upendram, Q. Hasan, B. Priyanka, R. Rohit, R. Devaki.
3206
T Mosaicism involving a normal cell line and an
unbalanced structural rearrangement.
B. M. Shaw, S.
Elrefai, B. Wolf, L. Whiteley, M. Strecker, K. Hovanes, M.
Cankovic, S. Michalowski.
3207
F High resolution copy number analysis of genes
involved in gonadal differentiation in patients with
disorder of sexual development.
S. A. Yatsenko, F. X.
Schneck, J. Fox, S. Madan-Khetarpal, S. F. Witchel, U.
Surti, A. Rajkovic.
3208
T 22q11.2 Deletion in patients with syndromic cleft
lip and palate.
S. Carpeta, I. Zarante, M. C. Martinez, O.
M. Moreno.
3209
F Co-occurrence of 22q11 deletion syndrome and
HDR syndrome.
R. Fukai, N. Ochi, N. Matsumoto, N.
Miyake.
3210
T Generation of a custom array for copy number
variation in congenital diaphragmatic hernia.
M.
Russell, K. Darvishi, M. Longoni, C. H. Hsieh, F. High, A.
Kashani Pour, A. Tracy, C. Coletti, C. Zhang, B. Pober, K.
Lage, C. Lee, P. Donahoe.
3211
F Multiplex ligation-dependent probe amplification
for detection of copy number variation in early-onset
glaucoma patients from the U.S.
K. Allen, M. Janessian,
K. Linkroum, W. Abdrabou, E. DelBono, J. L. Wiggs.
3212
T Autoimmune disorders as late onset feature of
16
p11.2 duplications.
C. Lowther, D. J. Stavropoulos, S.
Dyack, A. L. Lionel, C. R. Marshall, S. W. Scherer, A. S.
Bassett.
3213
F Evaluation of newborns with multiple congenital
anomalies by array-CGH: The experience of a public
hospital from Southern Brazil.
M. Riegel, L. Dorfman, R.
Mergener, K. de Souza, J. C. Leite.
3214
T Germline DNA copy number variation
investigation in individuals with argyrophilic grain
disease reveals
CTNS
as a plausible candidate gene.
C. Rosenberg, L. Kimura, D. Schlesinger, A. Gonçalves,
P. L. Pearson, C. K. Suemoto, C. Pasqualucci, A. C.
Krepischi, L. T. Grinberg, D. Vilella.
3215
F DUF1220 domain copy number associated
with extreme brain size in individuals with 1q21 copy
number variations.
V. B. Searles, J. Davis, S. W. Cheung,
S. C. S. Nagamani, J. Sikela.
3216
T Delineation of the genomic structure in the
human 2q13 region.
B. Yuan, P. Liu, K. Potamousis, D.
Schwartz, J. R. Lupski.
3193
F Prenatal diagnosis of a complex 9 break
rearrangement requires karyotype, microarray and
whole-genome sequencing.
M. J. Macera, A. Sobrino,
B. Levy, V. Jobanputra, V. Aggarwal, A. Mills, C. Esteves,
C.-Y. Yu, C. Hanscom, V. Pillalamarri, M. Talkowski, D.
Warburton.
3194
T Familial translocation t(4p;8p) associated with a
phenotype of combined hyperlipidemia.
N. Quaresemin,
M. L. M. Castro, C. H. P. Grangeiro, J. A. Josahkian, C.
M. Lourenço, L. A. F. Laureano, J. Huber, E. S. Ramos, L.
Martelli.
3195
F Mosaicism of a supernumerary marker ring
chromosome six in a patient with Turner phenotype.
J. Rojas Martínez, Y. P. Guatibonza, J. C. Prieto, O. M.
Moreno.
3196
T Clinical and molecular characterization of a
subtelomeric deletion of 19p13.3 including
STK11
with Peutz-Jeghers syndrome.
S. Ishimaru, T. Kudo, T.
Murakoshi, R. Fukuzawa, T. Kuchikata, H. Yoshihashi.
3197
F Association between abnormal phenotype and
chromosome heteromorphisms.
J. D. Grzesiuk, C. S.
Pereira, F. G. O. Gennaro, L. A. F. Laureano, S. A. Santos,
J. Huber, L. Martelli.
3198
T Ring chromosome 11: Familial case with normal
development.and short stature. Further delineation of
this rare cytogenetic abnormality.
A. Singer, R. Berger,
R. Segal, C. Vinkler.
3199
F Mosaic Turner syndrome with unilateral absence
of digital phalanges and renal agenesis.
H. Ulucan, A.
Koparir, G. Guven, A. Celebi, E. Koparir, M. Seven, M.
Ozen.
3200
T A de novo case of 5q33.3-q34 interstitial
triplication together with uniparental isodisomy
of 5q34-qter.
A. Fujita, H. Suzumura, N. Harada, N.
Matsumoto, N. Miyake.
3201
F Xq28 duplication including
MECP2
in 11 French
affected females: What can we learn for diagnosis
and genetic counselling?
S. El Chehadeh, R. Touraine,
F. Prieur, M. Doco-Fenzy, T. Bienvenu, S. Chantot, C.
Philippe, N. Marle, P. Callier, A. L. Mosca-Boidron, F.
Mugneret, N. Lemeur, A. Goldenberg, P. Chambon, V.
Satre, C. Coutton, P. S. Jouk, F. Devillard, A. Afenjar, M. C.
Addor, A. Ferrarini, S. Lebon, D. Martinet, J. L. Alessandri,
S. Drunat, C. Thauvin-Robinet, J. Thevenon, N. Perreton,
V. Desps Portes, L. Faivre.
3202
T Clinical features in a pediatric population due
to chromosome deletions at a third level pediatric
Mexican hospital in 19-year period of time: Five case
reports.
S. Chatelain, J. M. Aparicio-Rodriguez, M. L.
Hurtado-Hernandez, M. Barrientos-Perez, R. Zamudio-
Meneses, M. Palma-Guzmán, H. Chavez-Ozeki.
3203
F Syndromic intellectual disability in a patient with
3.5
Mb deletion at 1p13.3.
H. Cho, K. Ha, L. C. Layman,
H. Kim.