Page 250 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
239
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3095
W Detailed neurodevelopmental phenotype of
a child with a 22q11.2 distal deletion.
S. Mosca, L. M.
Langevin, A. C. Lionel, C. R. Marshall, B. Argiropoulos, A.
M. Innes, S. W. Scherer, D. Dewey, J. S. Parboosingh, F.
P. Bernier.
3096
F A de novo 163 kb interstitial 1q44 microdeletion in
a boy with thin corpus callosum, psychomotor delay and
seizures.
K. Selmer, E. Bryne, O. Rødningen, M. Fannemel.
3097
W Genotype phenotype correlation study of
2
q23.1 microdeletion syndrome and characterization of
three new patients.
L. Zhang, H. T. Bjornsson, D. Batista,
G. Wiesner, T. Wang, A. Parikh.
3098
F Polycystic kidney disease and a 2.5Mb
duplication on chromosome 3p22.1.
K. Dahan, M.
Madhoun, M. Gilliaux, V. Benoit, B. Grisart.
3099
W Subtelomeric deletion including the
WHSC1
gene located in the critical region of the Wolf-
Hirschhorn syndrome.
A. L. S. Ludmila Serafim, J. M.
Pina Neto, l. F. Mazzucatto.
3100
F Atypical form of osteopathia striata with
cranial sclerosis and increased mineral density in
an adolescent female with mosaic chromosome 2
rearrangement.
R. Mendoza-Londono, A. Howard, E.
Sochett, L. Dupius, D. J. Stavropoulos, R. C. C. Wong, S.
Robertson, A. M. Joseph-George.
3101
W Further evidence of the role of
HOXA
genes in
anatomical development.
P. A. Mowery-Rushton, R. A.
Schultz, J. B. Ravnan, J. E. Burton, J. Kussmann, J. A.
Rosenfeld, B. C. Ballif, L. G. Shaffer.
3102
F 4p16.3 Deletion limited to WHSCR2.
N. Okamoto,
K. Shimojima, T. Yamamoto.
3103
W Array CGH in 190 Korean patients with
developmental delay and/or intellectual disability: A
single tertiary care university center study.
Y. Sohn, C.
Lee, S. Park, J. Yun, E. Jung, H. Kim, S. Yim.
3104
F Diagnostic investigation in Rwandan patients
with MR/MCA.
A. Uwineza, J. Hitayezu, L. Mutesa.
3105
W Clinical features and genomic characterization
of two subjects with a pure duplication of 9q34.
H.
Yoshihashi, M. Ikegami, C. Torii, K. Kosaki.
3106
F Osteopathia striata with cranial sclerosis and
developmental delay in a male with a mosaic deletion
in chromosome region Xq11.2.
S. Chenier, A. Noor, L.
Dupuis, D. J. Stavropoulos, R. Mendoza-Londono.
3107
W Keratoconus associated with Williams-Beuren
syndrome: New case report.
M. C. Frasson, M. M. Viana,
L. L. Leao, M. Stofanko, H. Goncalves-Dornelas, P. S.
Cunha, M. J. B. Aguiar.
3108
F Minimal interstitial deletion in a patient with de
novo 15q24 microdeletion syndrome presenting with
severe scoliosis.
X. Gao, C. Johnston, S. Sparagana, C.
A. Wise.
3081
W MiR-133a and MiR-422a in human circulating
monocytes are potential microRNA biomarkers
underlying postmenopausal osteoporosis.
Y. Wang, L.
Li, B. T. Moore, X. H. Peng, X. Fang, J. M. Lappe, R. R.
Recker, P. Xiao.
3082
F Genome-wide mosaic paternal uniparental
isodisomy.
J. Kalish, A. Wilkens, S. Mulchandani, E.
Zackai, N. Spinner, M. Bartolomei, L. Conlin, M. Deardorff.
3083
W The catalase: Influence of C-262 T
polymorphism on keratoconus.
S. Torabi Dalivandan,
Z. Salehi, S. Saboohi, M. J. Mohammadi Fatideh, H.
Yourdkhani.
3084
F Metabolic abnormalities in Williams-Beuren
syndrome patients and candidate genes.
M. G.
Palacios, R. Flores, V. Campuzano, M. del Campo, M.
Segura-Puimedón, L. A. Perez-Jurado.
3085
W Bilateral radioulnar synostosis and vertebral
anomalies in a child with a 16p13.3 interstitial deletion.
T. Slavin, A. Tam, K. Lee, S. Lee, W. Burkhalter.
3086
F
ASTN2
deletions in autism spectrum disorder
and related neuropsychiatric phenotypes.
M. T. Carter,
A. C. Lionel, A. K. Vaags, B. A. Fernandez, W. Roberts, P.
Szatmari, C. R. Marshall, S. W. Scherer.
3087
W Atypical deletions of the Williams-Beuren
syndrome region implicate genes involved in mild
facial phenotype, epilepsy and autistic traits.
G. Merla,
L. Micale, C. Fusco, B. Augello, P. Alfieri, M. C. Digilio, D.
Menghini, S. Vicari.
3088
F Morphogenesis of the face in Wolf-Hirschhorn
syndrome: Three elucidative patients.
J. Carey, A.
Calhoun, P. Hammond, A. Lortz, S. South.
3089
W Growth hormone receptor gene polymorphism
and Prader-Willi syndrome.
M. G. Butler, J. Roberts, J.
Hayes, X. Tan, A. Manzardo.
3090
F Molecular characterization and genotype/
phenotype correlation of ten patients with structural
rearrangements in the
NIPBL
gene.
Y.-W. Cheng, C. Tan,
K. Arndt, S. Das, D. del Gaudio.
3091
W
TSC2
-
PKD1
contiguous deletion syndrome
with aortic stenosis and severe myopia.
K. Enomoto, Y.
Sugawara, M. Hotate, Y. Motoyoshi, Y. Hatai, S. Mizutani,
K. Kurosawa.
3092
F Jacobsen syndrome: Cognitive-behavioral
profiles, developmental trajectories, and IQ related to
deletion size.
G. Fisch.
3093
W Concurrent deletion of
BMP4
and
OTX2
genes: Clinical evidence of synergistic effect of the
two master genes in ophthalmogenesis.
R. Kosaki, T.
Takenouchi, C. Torii, S. Nishina, K. Kosaki.
3094
F Interstitial deletion of 3.8 Mb in chromosome
6
q25.2-6q25.3 in a patient with Coffin-Siris syndrome.
S.
Mizuno, E. Nishi, Y. Muramatsu, M. Tominaga, K. Kurosawa.