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1259T Cytogenetic analysis in material from abortions
in couples with recurrent first-trimester miscarriages.
C. Uria Gomez, G. Arteaga Ontiveros, A. Rodríguez
Gómez.
1260T Fetoplacental discrepancy with normal
karyotype in amniotic fluid and two different cell lines
in placenta: A case report.
G. Velagaleti, K. Higby, E.
Williamson, C. Mendiola, V. Ortega.
1261T Mosaic isodicentric Y chromosome in a patient
with mix gonadal dysgenesis.
Z. Yilmaz, B. Yuksel, O.
Ozer, F. I. Sahin.
1262T Sex chromosome rearrangement and
mosaicism in four patients with short stature and
ovarian failure.
C. Yu, M. Torchinsky, O. Abdul-Rahman,
R. Morris, R. Hines.
1263T Pathogenicity of interstitial deletions 14q
investigated by CGH microarrays: When the size of the
abnormality does not warrant that it is de novo.
M.
Beaulieu Bergeron, G. Mathonnet, V. Désilet, J. Gekas, M.
Sylvain, R. Fetni, F. Tihy, E. Lemyre.
1264T Interstitial 21q22.3 chromosomal deletion
associated with intellectual disability, behavioral
abnormalities, and microcephaly in siblings.
C. Cottrell,
S. Kulkarni, M. Vineyard, M. Shinawi.
1265T Deletion 1q24q25: Four new cases with
recognizable phenotype.
M. de Blois-Boucard, V. Malan,
O. Raoul, N. Morichon, M. Willems, S. Nussbaum, A.
Munnich, M. Vekemans, V. Cormier-Daire.
1266T Chromosome microarray analysis and zebrafish
studies identify CCDC165 as a new candidate gene for
coloboma.
P. Eydoux, B. McGillivray, K. Schlade-
Bartusiak, C. Lyons, C. Gregory-Evans.
1267T Prenatal detection of mosaicism for
del(10)(q11.2) caused by a common chromosomal
fragile site FRA10G is associated with a normal
phenotype.
J. Liao, M. Sathanoori, S. A. Yatsenko, U.
Surti.
1268T Identification of a recombination hotspot
sequence at the breakpoint region of the 22q11
deletion using a yeast model.
T. Ohye, H. Inagaki, H.
Kogo, M. Tsutsumi, B. S. Emanuel, H. Kurahashi.
1269T Subtelomeric microdeletions 19p13.3 are
associated with gastrointestinal dysmotility, multiple
congenital anomalies and global developmental delay.
S. Peddibhotla, S. W. Cheung, P. Stankiewicz, F. Probst,
L. L. Harris, G. H. Vance, G. H. Scharer, L. K. Parsley, A.
Patel.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1270T Narrowing down congenital heart disease
critical region boundaries on chromosome 4q
according to the phonotypes of a patient with 2q34-
qter duplication and 4q34.2-qter deletion.
A. Rashidi-
Nezhad, S. M. Akrami, N. Parvaneh, F. Farzanfar, C. Azi
A. Reymond.
1271T Comparison of two different high-resolution
genomic arrays, the Affymetrix® Cytogenetics 2.7
versus the Genome-Wide Human SNP 6.0 Array, for
diagnosis of CNVs in patients with intellectual
disability.
R. Asadollahi, B. Oneda, S. Azzarello-Burri,
Baldinger, A. B. Ekici, D. Niedrist, A. Reis, D. Bartholdi,
Baumer, A. Rauch.
1272T Familial 5q14.3-5q21.1 duplication associated
with microcephaly and developmental delay
characterized by array-based comparative genomic
hybridization.
S. Ebrahim, D. Stockton, R. Chikamane,
Hankerd, M. Kristofice, J. Wojciechowski, A. N. Moham
1273T Pathogenic chromosomal aberrations in the
families with mental retardation and developmental
delay detected by array-CGH.
V. Kucinskas, J.
Kasnauskiene, Z. Ciuladaite, E. Preiksaitiene, A.
Alexandrou, G. Koumbaris, P. Patsalis.
1274T Detection of chromosome abnormalities of
spontaneous aborted samples using multiple ligatio
dependent probe amplification.
S. W. Lyu, S. R. Sung
E. Park, K. M. Kang, M. U. Chin, J. W. Kim, D. H. Cha,
H. Shim.
1275T Uniparental disomy: Can SNP array data be
used for diagnosis?
T. Tucker, K. Schlade-Bartusiak, P.
Eydoux, T. Nelson, L. Brown.
1276T Mosaic 27.49 Mb 18q terminal deletion with a
non-mosaic 461 Kb deletion at the deletion breakpo
J. Wang, A. Hajianpour, B. Huang, R. Habibian, J.
Szymanska, H. Zhu.
1277T Duplications of the DGS region on both
chromosome 22 homologues in three patients — Th
co-occurrence on both homologues can involve bot
inherited and de novo events.
W. Bi, J. Wiszniewska,
J. Probst, B. S. Carter, M. D. Williams, P. Stankiewicz,
Patel, J. R. Lupski, S. W. Cheung.
1278T The
PRR12
gene is disrupted by a de novo
balanced t(10;19) chromosome translocation in a gir
presenting with psychomotor retardation, aggressio
and seizures.
C. Córdova-Fletes, V. Kalscheuer, R.
Ullman, P. Barros-Núñez, B. Verduzco-Garza, M. G.
Domínguez, R. Ortiz-López.
1279T SNP arrays: comparing diagnostic yields for
four platforms in children with developmental delay.
D'Amours, M. Langlois, G. Mathonnet, J. L. Michaud,
S. Phillips, E. Lemyre.