Page 234 - ASHG 2013 Program Guide

POSTER SESSIONS
  221
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2664
W Monozygotic twins with Turner syndrome and
discordant phenotypes but concordant genotypes due
to in utero chimerism.
A. O’Donnell, T. L. Toler, J. Krier,
S. E. Dukhovny, S. Eggert, S. Weremowicz, F. Bieber, A.
E. Lin.
2665
T Detection of an
FMR1
deletion by chromosomal
microarray analysis.
J. Smith, A. E. Scheuerle, L. Ellis,
S. Peacock, P. Fang, A. Patel.
2666
F Microcephaly associated with duplication of
chromosome 15q24.
Y. Wang, Y. Zhou, D. Shrestha,
E. Carter.
2667
W Elevation of insulin-like growth factor
binding protein 2 level in Pallister-Killian syndrome:
Implications for the postnatal growth retardation
phenotype.
K. Izumi, E. Kellogg, M. Kaur, A. Wilkens,
I. Krantz.
2668
T Aetiology of moderate mental retardation.
A. Kumar, M. Vashist.
2669
F A dyslexia case with de novo der(14)t(Y;14)
(
q10;q10).
E. Kirat, G. Güven, M. Seven, M. Özen,
E. Yosunkaya, H. Ulucan.
2670
W Computer-aided facial recognition of
individuals with Angelman syndrome.
L. Wolf, W. H. Tan,
L. Karlinsky, M. Shohat, L. M. Bird.
2671
T Computer-aided detection of Down
syndrome from facial photography.
Q. Zhao, K.
Rosenbaum, D. Zand, L. Kehoe, R. Sze, M. Summar,
M. Linguraru.
2672
F Tetraploid/diploid mosaicism as a potential
cause of hypospadias.
J. C. Giltay, A. J. Klijn, M. van
Breugel, L. van der Veken, R. Hochstenbach.
2673
W Domains of histone marks in monozygotic
twins discordant for trisomy 21.
X. Bonilla, A.
Letourneau, F. A. Santoni, M. R. Sailani, M. Guipponi,
C. Gehrig, S. E. Antonarakis.
2674
T Wolf-Hirschhorn syndrome: Natural history
into adulthood. A preliminary study of twenty-one
individuals.
A. Battaglia, V. Doccini, T. Filippi, A. Lortz,
J. C. Carey.
2675
F Prader-Willi syndrome and oculocutaneous
albinism due to a 5;15 translocation and hemizygous
OCA2
mutation.
A. C. E. Hurst, C. R. Haldeman-
Englert, T. H. Stamper, M. Hanna, M. J. Pettenati,
P. P. Koty.
2676
W Comparing serum calcium tests in 22q11DS
and other genetic conditions: Ionized vs. total calcium.
E. Chow, T. Leung, M. Torsan, C. Stefan.
2677
T Scoliosis and vertebral anomalies: Additional
abnormal phenotypes associated with chromosome
16
p11.2 rearrangement.
H. Al-Kateb, G. Khanna, I.
Filges, S. Kulkarni, M. Shinawi.
2652
W Clinical and cytogenomic evaluation in two
siblings with an 8.5 Mb 6q24.2q25.2 deletion inherited
from a paternal insertion.
M. I. Melaragno, S. S. Takeno,
M. Migliavacca, A. L. Pilla, N. L. M. Sobreira, C. B. Mello,
V. A. Meloni.
2653
T Developmental and growth delays,
dysmorphic features and microcephaly in a child with
microduplication 12q13.12.
C. Melver, A. Archbold.
2654
F Diagnostic and management challenges of
genetic diseases in Rwanda.
L. Mutesa, A. Uwineza, J.
Hitayezu, S. Murorunkwere, E. K. Rusingiza, L. Tuyisenge,
R. Teteli, J. Mucumbitsi, N. Muganga, A. C. Hellin, M.
Jamar, V. Bours.
2655
W Neonatal management of trisomy 13: Clinical
details of 12 patients receiving intensive treatment.
E. Nishi, M. Takasugi, T. Hiroma, T. Nakamura, Y.
Fukushima, T. Kosho.
2656
T Estimation of live birth prevalence of Down
syndrome in Japan.
I. Ohashi, Y. Kuroda, M. Masuno,
Y. Kuroki, K. kurosawa.
2657
F National Institutes of Health activities in Down
syndrome research: From creation of a consortium to
support of a patient registry, DS-Connect.
M. A. Parisi,
S. Bardhan, L. Kaeser, M. L. Oster-Granite, V. Rangel
Miller, Y. T. Maddox.
2658
W Phenotype correlation of a patient with
a large 16q23.2 to 16q24.3 duplication and a
patient with a 16q23.3 to 16q24.3 duplication
and small 16p13.3 deletion.
J. Richer, J. McGowan-
Jordan.
2659
T Predicting obstructive sleep apnea in people
with Down syndrome.
B. Skotko, M. McDonough, L.
Voelz, D. Rosen, A. Ozonoff, E. Davidson, V. Allareddy, N.
Jayaratne, R. Bruun, N. Ching, G. Weintraub, L. Albers
Prock, R. Becker, D. Gozal.
2660
F Diamond-Blackfan anemia due to a
RPS17
gene
deletion in a child with previously detected “balanced”
15,16
translocation.
J. Sullivan, S. Barry, J. Luty, M.-A.
Abbott.
2661
W The Developmental Genome Anatomy
Project: Annotating the human genome from
balanced chromosomal rearrangements.
K. E. Wong,
I. Blumenthal, H. Brand, B. Currall, C. Hanscom, T.
Hoyos, D. Lucente, Z. Ordulu, M. R. Stone, S. Pereira,
V. Pillalamarri, L. P. Yuan, J. F. Gusella, D. J. Harris, E.
C. Liao, R. L. Maas, B. J. Quade, M. E. Talkowski, C. C.
Morton.
2662
T Establishing a reference group for distal 18q-:
Clinical description and molecular basis.
J. Cody,
M. Hasi, B. Soileau, P. Heard, E. Carter, C. Sebold, L.
O’Donnell, B. Perry, R. Stratton, D. Hale.
2663
F Dysmorphological characteristics of mosaic
4
q31 terminal deletion: A case report.
D. Torun,
Y. Tunca.