Page 158 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
W Our experience of clinical implementation
of whole-genome array CGH as a first-line test in
postnatal cases.
V. Malan, J.-M. Lapierrre, M.-C. de
Blois, C. Ozilou, S. Nusbaum, O. Raoul, M. Le Merrer,
A. Harroche, R. Caumes, G. Baujat, F. Cartault, M. Rio,
J. Amiel, S. Lyonnet, V. Cormier-Daire, A. Munnich, M.
Vekemans, S. Romana.
T Copy number variation in hereditary colorectal
A. L. Martin, B. A. Talseth-Palmer, D. M. Grice,
G. N. Hannan, R. J. Scott.
W Using macrocephaly as a quantitative
endophenotype in autism patients to enhance the
identification of novel candidate genes.
J. Reiner, D.
Moreno-De-Luca, E. B. Kaminsky, D. H. Ledbetter, C. L.
T Study of genomic changes in children with
intellectual and developmental disabilities using
chromosomal microarray.
P. Sharma, N. Gupta, M. R.
Chowdhury, R. Shukla, M. Ghosh, M. Kabra.
W Association of rare copy number variations and
risk for Alzheimer’s disease.
D. Villela, D. Schlesinger, C.
K. Suemoto, L. T. Grinberg, A. C. Krepischi, C. Rosenberg.
T Coronary artery disease genomics: CNV findings
in the group of patients from Lithuania.
V. Kucinskas, I.
Pepalyte˙, A. Pranculis, l. Bagdonaite, V. Dzenkeviciute, Z.
W An unbalanced translocation causing a 21q11.2
deletion in an infertile male.
I. Holm, K. Eiklid, C. Hauge,
V. Rønning, H. Wold.
T Single cell copy number profiling in a 24-hour
workflow with oligo aCGH.
P. Costa, S. Fulmer-Smentek,
A. De Witte.
W Four new polymorphic CNVs in cohort of
Bulgarian patients with intellectual disability/
congenital malformations and autism.
S. P.
Hadjidekova, D. M. Avdjieva-Tzavella, B. B. Rukova, D. V.
Nesheva, R. S. Tincheva, D. I. Toncheva.
T First detection of clonal trisomy 4 cells from 3
cases of ossifying renal tumor of infancy.
J. Liu, M.
Guzman, B. Pawel, D. Pezanowski, J. Roth, G. Halligan, J.
de Chadarévian1.
W 17p13.3 Microduplication syndrome: Report
of additional findings.
L. Mutesa, E. Chabchoub, J.-
H. Caberg, A.-C. Hellin, M. Jamar, H. Peeters, G. van
Buggenhout, G. Pierquin, J. Andrieux.
T Chromosome aberrations among 4617
chromosomal studies at a pediatric Mexican hospital
in 19-year period of time.
J. M. Aparicio, M. L. Hurtado,
M. P. Barrientos, W. B. San Martin, A. F. Nuñez, R. G. Ruiz,
H. T. Gomez, S. P. Rodriguez, R. M. Zamudio, F. L. Cuellar,
M. A. Cubillo, F. P. Sierra, M. G. Palma, H. O. Chavez, S.
M. Chatelain.
W Study of sodium pertechnetate on bone marrow
W Complex phenotype associated with 17q21.31
A. Pic-Taylor, H. Dornelles-Wawruk, C.
Rosenberg, A. C. Krepischi, H. P. N. Safatle, I. Ferrari, J.
F. Mazzeu.
T Association of a deletion downstream of
with benign hereditary chorea: Transfer of a benign
CNV to likely pathogenic category.
U. Surti, J. Liao, K.
Coffman, J. Hu, M. Sathanoori, S. Yatsenko, S. Madan-
Khetarpal, M. McGuire, A. Rajkovic.
W Chromosomal microarray analysis in 22q11.2
deletion syndrome: New insight to LCR-mediated
A. Tsai, D. Klepacka, M. Dodge.
T Array CGH as a first line diagnostic test in place
of karyotyping for postnatal referrals: Results from
four years clinical application for over 7,800 patients.
J. W. Ahn, S. Bint, A. Bergbaum, K. Mann, R. P. Hall, C.
Mackie Ogilvie.
W Identification of the critical region for 7q32q34
deletion syndrome in a 1.5 Mb region at 7q32.3q33.
J. Chen, J. Hoffman, K. Phelan, H. C. Andersson.
T Clinical implementation of whole-genome array
CGH in Korean patients with pediatric neurologic
diseases and multiple congenital anomalies.
E. Shin, K.
Lee, B. Eun.
W Chromosome and segmental imbalances
detected by array CGH in samples of product of
conception: a pilot study.
S. Xu, X. Wang, W. Xu, F.
Gong, J. Lee, X. Lu, S. Li.
T Hemophilia A and trigonocephaly in a male with
a complex chromosome rearrangement involving
chromosomes X and 1.
J. Liu, J. Chernos, R. Lamont, R.
Perrier, B. Argiropoulos.
W Identification of cryptic genomic imbalance
in congenital and development abnormalities: An
institutional experience.
F. J. Sheth, J. Andrieux, M.
Desai, J. Sheth, T. Mampilly, G. Mampilly, C. Neeradha, J.
Vijayalakshmy, K. Godbole, S. Desai.
T Lack of evidence for biparental inheritance of
copy number variation contributing to pathogenic
features in a series of clinical microarray cases.
E. Cottrell, S. Kulkarni, H. Al-Kateb, M. Evenson, S.
Anderson, D. Lamb Thrush, S. Hashimoto, A. K. Bailes, L.
Erdman, A. McKinney, C. Weber, J. Weslow-Schmidt, S.
Ramsey, C. Astbury, S. Reshmi, J. M. Gastier-Foster, R.
E. Pyatt.
W 7q33 Deletion in a family with intellectual
disability, dysmorphic features and behavioral
A. Fortuna, F. Lopes, S. Sousa, J. Silva, C.
Gomes, P. Maciel.
T Investigation of the parental origin and genomic
mechanisms involved in de novo pathogenic CNVs in
congenital disorders.
S. Hayashi, M. Naganawa, D. T.
Uehara, J. Inazawa.