Page 248 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
237
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3041
W Mowat-Wilson syndrome: Case report.
J. Acosta
Guio, A. Zarante.
3042
F The association of low socioeconomic status and
the risk of having children with Down syndrome: A report
from the National Down Syndrome Project.
J. E. Hunter, E.
G. Allen, L. J. H. Bean, S. B. Freeman, S. L. Sherman.
3043
W Surgical intervention for esophageal atresia in
patients with trisomy 18.
E. Nishi, T. Nakamura, K. Iio, S.
Mizuno, H. Kawame, Y. Fukushima, T. kosho.
3044
F Mosaic supernumerary ring chromosome
3:
Does copy number gain of FOXP1 contribute
to expressive speech impairment and intellectual
disability?
I. Filges, A. Datta, E. Boehringer, L. Suda, B.
Roethlisberger, P. Miny.
3045
W Cat eye syndrome: Wide clinical variability in
three patients from the same family.
M. I. Melaragno,
S. I. Belangero, A. N. Pacanaro, F. T. Belucco, D. M.
Christofolini, L. D. Kulikowski, R. S. Guilherme, A. Bortolai,
A. R. Dutra, F. B. Piazzon, M. C. Cernach.
3046
F Maternally inherited Xq26.2 duplication in a male
offspring with severe prenatal and postnatal growth
deficiency, dysmorphic facial features, hydrocephalus
and developmental delay resembling Russell-Silver
syndrome.
L. Tuzovic, J. Wynn, L. Rohena, K. Anyane-
Yeboa, A. Iglesias.
3047
W De novo translocation disrupting mediator
complex subunit in a patient with Pierre-Robin
sequence and developmental delay.
K. H. Utami, A.
M. Hillmer, E. G. Y. Chew, C. L. Winata, V. Korzh, S.
Mathavan, P. Sarda, S. Davila, V. Cacheux.
3048
F 614kb Duplication at chromosome 9q22.32
encompassing
PTCH1
gene in a family with reciprocal
translocation (9;20)(q22;q13) and intrafamilial
phenotypic variability.
C. Vinkler, D. Lev, A. Singer, A.
Frumkin, M. Davidovich, M. Michelson, Y. Michaeli-Yossef.
3049
W Case report: A boy with 49, XXXXY syndrome,
diagnosed by karyotype and a characteristic
phenotype.
A. Zarante, J. C. Prieto, O. Moreno.
3050
F 6p25 Interstitial deletion in two dizygotic twins
with gyral pattern anomaly and speech and language
disorder.
M. Bozza, L. Bernardini, A. Novelli, P. Brovedani,
E. Moretti, R. Canapicchi, V. Doccini, T. Filippi, A. Battaglia.
3051
W Microdeletion of 19p13.3 in a girl with Peutz-
Jeghers syndrome, intellectual disability, hypotonia,
and dysmorphic features.
Y. Kuroda, T. Saito, J. Nagai,
K. Ida, T. Naruto, M. Masuno, K. Kurosawa.
3052
F Maternal mosaicism for deletion of 22q13.3
resulting in siblings with Phelan-McDermid syndrome.
K. Phelan, B. R. DuPont, R. C. Rogers.
3053
W De novo interstitial deletion of 3q22.1-q22.3 in
two patients: A new microdeletion syndrome.
Y. Wilnai,
W. Wilson, C. Jett, M. Manning.
3028
T Genome-wide association study of preterm
delivery in mothers.
F. Geller, B. Feenstra, M. Melbye, R.
Myhre, S. Myking, Early Growth Genetics Consortium, T.
I. A. Sørensen, P. Magnus, M. L. Marazita, J. C. Murray, B.
Jacobsson.
3029
T Evidence of SNP variation in the folic acid
metabolic pathway associates with preterm birth.
Y.
Chen, B.-J. Wang, M.-J. Liu, Y. Wang, J. Mao, S.-N. Wang,
J.-R. Dai, H. Li, N. Zhong.
3030
T Investigation of genetic risk factors for chronic
adult diseases in preterm birth.
N. Falah, J. McElroy, V.
Snegovskikh, C. Lockwood, E. Kuczynski, E. Norwitz, J.
Murray, R. Menon, K. Teramo, L. Muglia, T. Morgan.
3031
T Maternal SNPs in the p53 pathway: Risk factors
for aneuploidy 21?
A. P. C. Brandalize, J. A. Boquett, L.
R. Fraga, L. Schuller-Faccini.
3032
T Disomy 21 mosaicism in sperm.
E. Iwarsson, U.
Kvist, M. A. Hultén.
3033
T DiGeorge sequence due to uncontrolled
maternal gestational diabetes.
A. Ludtke, T. Mucci, M.
Aquino, E. Graber, L. Mehta.
3034
T Investigation of telomere length in newborns
and correlation with gestation age and birth weight.
E. C. Tan, S. N. Lim, Z. Yahya, D. Zeegers, T. Moe, E. E. P.
Kyaw, G. S. H. Yeo, M. P. Hande.
Clinical Genetics and Dysmorphology
3035
W A case of arthrogryposis and mosaic Turner
syndrome.
L. Mora, A. Lopez, I. Zarante.
3036
F Paternal uniparental disomy 6 and 2q13 deletion
detected prenatally in a patient with cardiac defects,
transient neonatal diabetes mellitus, hydrocephalus
and dysmorphic features.
D. Niyazov, C. Tillis, D.
Feliperamirez, A. Robichaux.
3037
W Congenital acquired mosaicism for monosomy
7.
J. Hiemenga, S. Klemm, J. Foley, H. Toriello.
3038
F Overgrowth as a presenting symptom of the
22
q11.2 duplication syndrome: A novel association.
D.
McDonald-McGinn, E. Bratton, K. Dickinson, A. Kohut,
A. Bailey, A. Wilkens, I. Krantz, B. Emanuel, S. Saitta, M.
Deardorff, E. H. Zackai.
3039
W Down syndrome patients nutritional evaluation
at the Hospital para el Nino Poblano outpatients.
M.
Cortes, J. M. Aparicio, R. J. M. Perez, F. E. P. Romero.
3040
F Follow-up of patient with non-supernumerary
ring chromosome 7: Clinical manifestations,
cytogenetic and molecular analysis.
C. Salas, P. Perez-
Vera, D. Cervantes, R. Cruz-Alcivar, R. Daber, L. Conlin,
L. Leonard, N. B. Spinner, C. Durán-McKinster, V. Del
Castillo-Ruiz.