Page 249 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3068
F Complex chromosomal translocation leading to
a dual diagnosis of Prader-Willi syndrome and Cri-du-
chat in a 14- year-old boy illustrating the importance of
re-evaluation in an individual with atypical Prader-Willi
phenotype.
J. A. Gold, S. Ramanathan.
3069
W Molecular characterization of
SHOX
gene and
regulatory regions in patients with idiopathic short
stature from three medical centers in of Bogota,
Colombia.
T. Vinasco, G. Jaimes, M. Coll, C. Cespedes,
H. Velasco.
3070
F Clinical and molecular characterization of
non-syndromic craniosynostosis: An international
consortium approach.
M. L. Cunningham, P. A.
Romitti, C. M. Justice, A. F. Wilson, T. Roscioli, E.
Oláh, B. Bessenyei, M. R. Passos-Bueno, B. Wollnik,
A. O. M. Wilkie, S. A. Boyadjiev Boyd, International
Craniosynostosis Consortium.
3071
W Molecular prenatal diagnosis of a sporadic
alobar holoprosencephalic fetus: Genotype-phenotype
correlations.
J. Gekas, C. Sergi, D. Kamnasaran.
3072
F Sonic Hedgehog regulatory region deletion in
a patient with holoprosencephaly.
L. Ribeiro-Bicudo,
R. Quiezi, M. Ansari, K. Williamson, A. Richieri-Costa, D.
FitzPatrick.
3073
W Associated malformations among infants with
radial ray deficiency.
C. Stoll, B. Dott, Y. Alembik, M. P.
Roth.
3074
F Orofaciodigital syndrome in a group of patients
who attended Operation Smile Foundation in Colombia,
between 2005 and 2012.
J. Martinez, I. Briceno, A.
Venegas, S. Bohorquez, M. Montiel, A. Patiño, L. Arias.
3075
W A new type of acrofacial dysplasia: Prenatal
diagnosis and autopsy findings.
K. Millar, A. Toi, S.
Keating, P. Shannon, S. Unger, D. Chitayat.
3076
F Development of a visit assessment tool to address
birth defects and dysmorphology.
O. A. Abdul-Rahman, L.
Hayes, B. Loyola, D. A. Stevenson, S. Astley, C. Chambers,
K. L. Jones, H. E. Hoyme, F. Waffern, J. C. Carey.
3077
W A new case of craniofacial microsomia autosomal
dominant associated with complete right side testicular
and scrotal ectopia.
J. Rojas Martínez, J. C. Prieto Rivera.
3078
F A replication study of genome-wide significant
rheumatoid arthritis susceptibility loci in the Pakistani
population.
S. F. Jalil, A. Bhatti, F. Y. Demirci, X. Wang, I.
Ahmed, M. Ahmed, M. M. Barmada, J. M. Malik, P. John,
M. I. Kamboh.
3079
W A novel missense mutation in
PARD3
is
associated with class III malocclusion.
T. Nikopensius,
M. Kals, T. Annilo, T. Jagomägi, M. Saag, A. Metspalu.
3080
F Genotype/phenotype correlation in Smith-
Magenis syndrome with abnormal 17p deletions.
T. Vilboux, A. C. M. Smith, S. Chandrasekharappa, C.
Ciccone, J. Blancato, W. J. Introne, W. A. Gahl, M. Huizing.
3054
F Chromosomal microarray analysis of individuals
with autism or learning deficits presenting for genetic
services.
J. Roberts, J. Hayes, N. Dzidic, K. Hovanes, M.
Dasouki, M. G. Butler.
3055
W A Wolf Hirschhorn-like phenotype in a patient with
a de novo 6q26-q27 deletion and 20p13-p12.1 duplication.
F. Faucz, H. Salomão, R. B. de Alexandre, A. Bonalumi, J.
Souza, J. A. Rosenfeld, S. Raskin, V. S. Sotomaior.
3056
F Submicroscopic chromosomal rearrangements
in patients with an Angelman syndrome-like
phenotype.
K. Hosoki, T. Ohta, N. Niikawa, S. Saitoh.
3057
W Twenty-two year follow-up of identical
twins with discordant phenotype due to a ring 13
chromosomal mosaicism in one of them.
Y. Lacassie.
3058
F 12p microRNA expression in fibroblast cell lines
from probands with Pallister-Killian syndrome.
K. Izumi,
Z. Zhang, M. Kaur, I. Krantz.
3059
W Genetics of precocious puberty: A proband with
Klinefelter syndrome, maternal uniparental disomy 14
and precocious puberty.
K. Reddy, H. Bass, J. Keni.
3060
F Molecular genetic testing of recurrent
anencephaly in a family without partial trisomy 2p22-
pter.
C. Sergi, J. Gekas, D. Kamnasaran.
3061
W Urethrocystoscopy, diagnostic laparoscopy,
versus testicular descent gonadectomy in a patient
with ambiguous genitalia: A case report.
F. Cuellar-
López, J. M. Aparicio, l. de la Torre.
3062
F Congenital association VACTERL at the Hospital
para el Nino Poblano, Mexico: Fourteen case reports.
A. Garcia-Guzman, J. M. Aparicio-Rodriguez.
3063
W Orthodontic correction in malformated
unilateral teeth structure in a patient with
pseudoachondroplasia: A case report.
S. Ochoa, J. M.
Aparicio, D. D. A. Camarillo, S. S. Cabrera.
3064
F Hearing loss frequency in a pediatric patient
group at a third level hospital.
A. Romero, J. M. Aparicio,
L. P. C. Gallegos.
3065
W Diagnostic exome sequencing reveals a de
novo mutation in the
DYNC1H1
gene in a sporadic case
of developmental delay, seizures, and polymicrogyria.
K. D. Gonzalez, J. Wei, X. Li, H. M. Lu, H. Lu, J. S. Cohen,
R. McClellan, S. Naidu, W. Zeng.
3066
F Congenital poikiloderma, fatty infiltration of
muscles and pulmonary fibrosis: A new syndrome.
S. Mercier, S. Kury, J. M. Mussini, A. Magot, B. Isidor, S.
Barbarot, A. David, S. Bezieau.
3067
W Prenatal diagnosis of a fetus with a
rare association of a multiple heart and renal
malformations: Case report.
M. Dumitrescu, D. F. Albu,
C. C. Albu, A. Oncescu, E. Severin.