Page 236 - ASHG 2013 Program Guide

POSTER SESSIONS
  223
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2716
T Wiedemann-Beckwith syndrome associated
with pre- and postnatal supraventricular tachycardia.
M. Willems, F. Brioude, S. Guillaumont, P. Amedro, M.
Vincenti, O. Pidoux, N. Fries, L. Begue, C. Dumont, P.
Sarda, P. Blanchet, L. Pinson, E. Haquet, J. Puechberty,
G. Lefort, C. Coubes, I. Netchine, D. Genevieve.
2717
F Amyoplasia with congenital eye malformations
and wrinkled skin: A new syndrome.
D. F. G. J. Wolthuis,
E. V. van Asbeck, H. C. Andersson, E. Morava-Kozicz,
MD, PhD.
2718
W The contribution of discrepant DNA variations
in discordant monozygotic twins with esophageal
atresia/ tracheo-esophageal fistula
E. Brosens, R. W.
W. Brouwer, D. Veenma, D. Tibboel, W. F. van IJcken, A.
de Klein.
2719
T A case with single deletion of 17q21.31
involving
KANSL1
gene and phenotype of CHARGE
association.
Y. M.. Chan, K. W. Choy, T. Y. Leung, C. A.
Bacino.
2720
F Femoral-facial syndrome: Long-term follow-
up and associated array CGH abnormalities.
A.
Jacquinet, H. Valdes-Socin, C. Libioulle, J. H. Caberg,
A. Verloes.
2721
W Identification of mosaic activating mutations
in overgrowth syndromes using a customized next-
generation sequencing panel on both prenatal and
postnatal samples.
L. Liu, F. Chang, E. Fang, G. Zhang,
M. M. Li.
2722
T Novel GATA4 promoter polymorphism
associated with congenital heart disease in South
Indian patients.
S. Mattapally, K. S. Murthy, S.
Nizamuddin, K. Thangaraj, S. K. Banerjee.
2723
F Trying to unravel the etiology of multiple
midline congenital anomalies misdiagnosed as
VACTERL.
E. M. Pereira, M. P. Ramos, J. M. Greally,
R. W. Marion.
2724
W Associated malformations among patients
with urinary congenital anomalies.
C. Stoll, B. Dott,
Y. Alembik, M.-P. Roth.
2725
T A new case of Crane-Heise syndrome with
comparative review of literature.
A. Handel, K. Fay,
M. Costaldi, R. Lebel.
2726
F Pathogenic CNVs and causative gene analysis
by SNP arrays as the third screening for 646 patients
with intellectual disability and multiple congenital
anomalies of unknown etiology.
D. T. Uehara, S.
Hayashi, J. Inazawa.
2727
W The oculoauriculovertebral spectrum: Refining
the estimate of birth prevalence.
M. T. Gabbett.
2728
T Initial data for benign CNVs distribution in
Bulgarian patients.
S. P. Hadzhidekova, D. M. Avdjieva-
Tzavella, B. B. Rukova, D. V. Nesheva, R. S. Tincheva,
D. I. Toncheva.
2703
W Congenital primary microcephaly and
type B-like brachydactyly: A new syndrome?
A. Lavillaureix, J. Masliah-Planchon, S. Passemard,
S. Drunat, A. Verloes.
2704
T Microrearrangements in individuals within the
holoprosencephaly spectrum.
L. A. Ribeiro-Bicudo, B. F.
Gamba, C. Rosenberg, A. L. B. da Rocha, A. L. C. Gaspar,
R. M. C. S. Sandri, A. Richieri.
2705
F Maternal consumption of clay during pregnancy:
An unexpected cause of recurrent congenital
microcephaly with intracranial calcifications in
babies from French Guyana (pseudo-Aicardi-Goutière
syndrome).
A. Verloes, S. Passemard, V. Lambert, G.
Carles, J. Goullé, A. Laquerrière.
2706
W Cystic lymphangioma in a 9-year-old boy with
Sotos syndrome: Review of the tumoral risk in this
overgrowth syndrome.
O. Cracco, G. Jedraszak, T.
Dery, B. Devauchelle, V. Strunski, L. Burglen, J. F. Ikoli, B.
Demeer, M. Mathieu, A. Leke, G. Morin.
2707
T Chromosome 4 deletions and translocations
among 4617 cariotype studies at a third level pediatric
Mexican hospital. 4p-, 4q-, T (1; 4), T (3; 4): Six case
reports.
R. Zamudio, J. M. Aparicio-Rodriguez, M. L.
Hurtado-Hernandez, F. Cuellar-Lopez, H. Chavez-Ozeki,
S. Chatelain-Mercado.
2708
F Bench to bedside... The role of clinical genetics
in the age of genomic medicine: The shifting paradigm.
T. Bardakjian, A. Slavotinek, A. Schneider.
2709
W Targeted next-generation sequencing for the
molecular genetic diagnostics of mandibulofacial
dysostosis.
Y. Kuroda, I. Ohashi, T. Saito, J. Nagai, K. Ida,
T. Naruto, M. Masuno, K. Kurosawa.
2710
T FATCO syndrome: Report nine cases in Peru
and case review.
H. Abarca-Barriga, B. Gallardo, M.
Trubnykova.
2711
F A novel mutation in the
MASP1
gene causes
autosomal recessive multiple congenital anomaly
syndrome.
H. Boulos, Y. Bejaoui, N. Khattab, Y. Al-Sarraj,
M. Kambouris, H. El-Shanti.
2712
W Diagnostic criteria in Gomez-Lopez-Hernandez
syndrome: Contribution of Brazilian patients.
C. H.
P. Grangiero, L. B. Mesqiota, J. A. Josahkian, C. M.
Leveprost, M. L. M. Castro, N. R. Quaresemin, L. A. F.
Laureano, A. C. Santos, J. M. Pina-Neto.
2713
T New syndrome:Brain malformations, Peters
anomaly and multiple intestinal atresias.
J. G. Pappas,
A. L. Shanske.
2714
F Richieri-Costa and Pereira syndrome: Severe
phenotype.
S. Raskin, M. Souza, M. C. Medeiros,
M. Manfron, D. C. Chong E. Silva.
2715
W Minor facial malformations in relatives of
patients with Goldenhar syndrome.
P. Santos, S.
Oliveira, H. Saffatle, M. Cordoba, I. Ferrari, J. Mazzeu.