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Prenatal and Perinatal Genetics
1364W The role of the human growth receptor exon 3
polymorphism (hGHRd3) in maternal glycemia and
neonate size.
E. S. Ingersoll, H. Weis, C. M. Ackerman, L.
P. Lowe, M. G. Hayes, B. E. Metzger, W. L. Lowe, M.
Urbanek, HAPO Study Cooperative Research Group.
1365W Chromosomal prenatal diagnosis: Study of 250
cases.
C. Albu, D. Albu, E. Severin, M. Dumitrescu.
1366W Prenatal molecular diagnosis of Down
syndrome: A comparison between molecular and
traditional karyotyping.
D. Chu, J. Liou.
1367W Rapid prenatal diagnosis of common
chromosome aneuploidies by QF-PCR: East-Slovenian
experiences.
A. Erjavec Skerget, S. Stangler Herodez, A.
Zagorac, B. Zagradisnik, N. Kokalj Vokac.
1368W A comparison of emerging technologies for
aneuploidy detection in spontaneous pregnancy loss.
C. N. Paxton, S. South, A. Brothman, K. Geiersbach.
1369W Rapid prenatal diagnosis of common
chromosome aneuploidies using quantitative
fluorescent (QF)-PCR: 10 years experience in a center
from the Republic of Macedonia.
D. Plaseska-
Karanfilska, S. Madjunkova, I. Maleva, S. Kiprijanovska.
1370W BACs on Beads technology, a rapid and reliable
screening for chromosomal aneuploidies: One year
experience.
G. Queipo, J. Duran, Z. Najera, N. Najera, R.
García- Cavazos.
1371W Female infant with t(X;Y), including
SRY
.
S.
Ramanathan, M. D. Maxwell Lutz, H. S. Brar, R. D. Clark.
1372W Detection of identical unbalanced karyotype in
two consequent fetuses due to a maternal pericentric
inversion of chromosome 18.
F. I. Sahin, O. Ozer, E.
Tarim, Z. Yilmaz.
1373W Limitations of quantitative fluorescent
polimerase chain reaction (QF-PCR) method on
detection of common chromosome aneuploidies.
Y. K.
Terzi, O. Ozer, Z. Yilmaz, E. Tarim, F. Yanik, F. I. Sahin.
1374W A recurrent familial L410R mutation in the TSC2
gene associated with isolated cardiac rhabdomyomas.
R. Teitelbaum, F. Golding, G. Ryan, D. Myles-Reid, R. K.
Basran, A. Milunsky, D. Chitayat.
1375W Mutations in the planar cell polarity gene
CELSR1 associated with neural tube defects in
humans.
R. Allache, P. De Marco, E. Merello, V. Capra, Z.
Kibar.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1376W Association of A80G polymorphism in the RF
gene with the risk for having spina bifida-affected
offspring in Southeast Mexico and interaction with
C677T-MTHFR.
L. Gonzalez-Herrera, O. Vargas-Sierra,
Contreras-Capetillo, G. Perez-Mendoza, I. Castillo-Zapa
D. Pinto-Escalante, T. Canto-Cetina.
1377W Spectrum and frequency of pathogenic
chromosomal structural variants detected among
fetuses with increased nuchal translucency and hav
normal karyotype.
K. Choy, H. K. Wong, W. Chong, K.
Kwok, K. W. Suen, C. C. Wang, T. K. Lau, T. Y. Leung.
1378W Diagnostic utility of array-based comparative
genomic hybridization in a prenatal setting: Our
experience of 502 cases.
I. Maya, B. Davidov, E. Taub
Zalzstein, M. Shohat.
1379W Cockayne syndrome and prenatal diagnosis.
Bozorgmehr, F. Afroozan, A. Kariminejad.
1380W Prenatal Noonan and aCGH testing for
increased nuchal translucency/thickness and cystic
hygroma.
C. Coffeen, N. Nakata, S. Bhatt, V. Watiker.
1381W Diagnosis and clinical presentation of 20
patients referred for antenatal hyperechogenic kidn
with renal cysts and diabetes syndrome.
K. Dahan, K
Lolin, K. Ismaili, L. Collard, B. Grisart, N. Godefroid, V.
Benoit.
1382W Difficulty in prenatal diagnosis of short ribs
with polydactyly.
C. Hills, M. E. Pierpont.
1383W Fryns-like multiple congenital anomalies
syndrome with 1,13 Mb chromosome 16p13.11
deletion detected by array-comparative genomic
hybridization.
J. Martinovic, C. Fallet-Bianco, B. Simon
Bouy, J. Michel, E. Alix, D. Sanlaville.
1384W Retrospective study of 1,094,807 newborns
showed the national average rate of preterm birth in
China is 5.5%, which has been increased 14% from
2005 to 2009.
N. Zhong, X.-L. Zhao, China Preterm
Clinical Research Consortium.
1385W Fetal hydrotorax — Case report.
D. Albu, C.
Albu, E. Severin, M. Dumitrescu.
1386W Prenatal ultrasound and autopsy findings in
Costello syndrome.
K. Chong, J. Jessen, K. Fong, S.
Keating, P. Shannon.
1387W Interaction within the 10q24.2 region with in
utero tobacco smoke exposure on asthma risk in
Latino children.
S. S. Oh, D. Hu, C. Gignoux, L. Roth,
Borrell, S. Sen, H. Farber, R. Kumar, F. Lurmann, P. Avil
D. Serebrisky, S. Thyne, W. Rodriguez-Cintron, J.
Rodriguez-Santana, E. Gonzalez Burchard.