Page 235 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2690
F Fetal alcohol syndrome and Pitt-Hopkins
syndrome in four maternal-half siblings.
A. Asamoah,
K. E. Jackson, Y. Senturias, K. Goodin, G. C. Gowans, K.
Platky, J. H. Hersh.
2691
W Normal appetite and BMI in a 9 year old girl
with haploinsufficiency of SIM1 due to a 2.2 MB
deletion at 6q16.2-q16.3.
G. A. Bellus, K. Zegar.
2692
T Lack of Nablus mask-like facial syndrome
phenotype in a patient with a de novo microdeletion
of chromosome 8q21.2q22.1.
D. Cherukuri, B. Crandall,
S. Kantarci.
2693
F
MECP2
deletion in a patient with Rett Syndrome.
S. S. Costa, D. Villela, C. Rosenberg.
2694
W Case report of a 17q21.31 microdeletion
associated with
EFTUD2
mandibulofacial dysostosis
with microcephaly identified by comparative genomi
hybridization.
S. K. Gandomi, D. M. Reeves, M. Parra,
C. L. Gau, V. Yap.
2695
T Nablus mask-like facial syndrome: 3 additional
cases add support that del 8q22.1 is necessary but not
sufficient to cause the classic phenotype
S. S. Jamuar,
H. Duzkale, N. Duzkale, C. Zhang, F. A. High, L. Kaban, S.
Bhattacharya, J. M. Stoler, A. E. Lin.
2696
F In the shadow of
MEF2C
:
Genotype-phenotype
correlation for 5q14.3q21 deletions.
J. A. Rosenfeld, K.
Stoate, A. Asamoah, R. R. Lebel, S. Raskin, L. Russell, J.
W. Ellison, L. A. Schimmenti.
2697
W Overlapping phenotype of Silver-Russell-
like and 14q32 microdeletion syndromes in a child
with submicroscopic 11p15.5 duplication and 14q32
deletion.
H. J. Mroczkowski, D. B. Lowenstein, H. Abdel-
Hamid, D. N. Saller, A. Rajkovic, S. A. Yatsenko.
2698
T SNP arrays in idiopathic intellectual disability.
E. Utine, G. Haliloglu, B. Salanci, A. Çetinkaya, P. O. Kiper,
Y. Alanay, D. Aktas¸, B. Anlar, M. Topçu, K. Bodurog˘ lu,
M. Alikas¸ifog˘ lu.
2699
F Bilateral cleft lip and bilateral thumb polydactyly
with triphalangeal component in a patient carrying
two de novo deletions on chromosome 4q32 and 4q34
involving
PDGFC
,
GRIA2
and
FBXO8
genes.
A. Brusco,
A. Calcia, G. Gai, E. Di Gregorio, F. Talarico, V. G. Naretto,
N. Migone, E. Pepe, E. Grosso.
2700
W Normal intelligence and features of Bardet-
Biedl syndrome in a family with a duplication of
chromosome 20p13-p12.1.
S. M. Nikkel, A. G. Hunter.
2701
T Inherited Yq12ter deletion associated with
congenital cataracts, microphthalmia and autistic
spectrum disorder in 3 brothers.
P. Bitoun, A. Delahaye,
B. Benzacken, E. Pipiras.
2702
F Malformation variability associated to chromosome
trisomies: Clinical and phenotypical implications in
several patients at a pediatric hospital in Mexico.
M.
Barrientos, J. M. Aparicio-Rodriguez, M. L. Hurtado-
Hernandez, M. A. Cubillo-Leon, S. Chatelain-Mercado.
2678
F
MED13L
haploinsufficiency in isolated delayed
neuromotor development: Further delineation of the
phenotypic spectrum.
B. Callewaert, A. Dheedene, B.
Menten, B. Delle-Chiaie, E. Snauwaert, K. Decaestecker,
F. Roelens, O. Vanakker.
2679
W Ear anomalies, mild intellectual disability,
delayed growth and oro-dental development in a boy
with a 5 Mb microduplication within 20q13.12q13.2.
J. R. Helle, M. Fannemel, T. Barøy, S. Axelsson, A. B.
Karstensen, E. Frengen, D. Misceo.
2680
T A novel interstitial microdeletion in 2q37 refines
critical region and candidate genes for microcephaly,
myelination and developmental delay expressed in
human neural progenitors.
J. Imitola, D. Khurana, A.
Legido, K. Carvalho.
2681
F Deep white matter brain abnormalities in a
patient with chromosome 15q11-q13 deletion and
Angelman syndrome phenotype.
N. Sekhri, G. Scharer.
2682
W Deletion 2q37: Cognitive-behavioral profiles
developmental trajectories, and IQ related to deletion
size.
G. S. Fisch, S. T. South, A. Rutherford, R. Falk, J. Carey.
2683
T Identification of 22q11.2 deletion in patients
from adult congenital heart disease clinic — A missed
burden in the transition care in Hong Kong.
B. Chung,
P. Chow, A. Liu, P. Lee, K. Chan, M. Tang, E. Lau, Y. F.
Cheung, K. T. Chau, Y. L. Lau.
2684
F Diagnosis of atypical 22q11.2 deletion and a
recurrent herpes zoster virus infection in a man with
T cell immunodeficienc .
L. P. Barragan Osorio, G.
Giraldo, J. C. Prieto.
2685
W Clinical characteristics of a newly identified
microdeletion syndrome involving chromosome region
16
q22.1.
L. Dupuis, M. Helal, D. J. Stavropoulos, R.
Mendoza-Londono.
2686
T Microarray comparative genomic hybridization
analysis as a diagnostic tool for the investigation of
patients with ID/DD/ASD with or without MCA.
M.
Tzetis, S. Kitsiou-Tzeli, H. Frysira, V. Oikonomakis, K.
Kosma, K. Giannikou, A. Syrmou, E. Kanavakis.
2687
F Mortality in patients with 22q11 microdeletion
syndrome.
G. M. Repetto, M. L. Guzman, M. Palomares,
G. Lay-Son, C. Vial, K. Espinoza, H. Loyola.
2688
W Array-CGH: Known syndromes, private variants
and new syndromes.
E. Biamino, E. F. Belligni, E. Di
Gregorio, C. Molinatto, A. Calcia, A. Mussa, E. Grosso,
A. Zonta, M. T. Ricci, L. Sorasio, G. Mandrile, G. Gai, V.
Naretto, P. Pappi, F. Talarico, A. Guala, P. Vigliano, G.
Restagno, E. Savin, N. Migone, G. B. Ferrero, M. Silengo,
A. Brusco.
2689
T Heterozygous microdeletion of 16q covering
SALL1
and
RPGRIP1L
could be a novel contiguous
gene syndrome with renal impairment.
N. Morisada, M.
Taniguchi-Ikeda, S. Ishimori, T. Ninchoji, H. Kaito, K. Nozu,
M. Adachi, Y. Takeshima, T. Sekine, K. Iijima.