42nd American Cytogenetics Conference
Hyatt Regency Hotel San Antonio, Texas April 19-22, 2012
Scientific Program
Thursday, April 19
11:30 am – 1:30 pm ACC Board Meeting – Pecan Room
2:30 – 5:00 pm Exhibitor Registration and set up – Rio Grande Ballroom
3:00 – 6:00 pm Conference Registration – Los Rios Foyer
Poster set-up Rio Grande Ballroom
5:30 – 7:00 pm Opening Reception – Rio Grande Ballroom – Sponsored by Leica Microsystems Corp
Friday, April 20
7:00 am – noon Conference Registration – Los Rios Foyer
7:00 am – noon Poster set-up – Rio Grande Ballroom
7:00 am – 5:30 pm Exhibits open – Rio Grande Ballroom
Please visit the booths, especially during the opening reception, continental breakfasts, breaks, lunch time and poster session.
7:00 – 9:00 am Continental Breakfast – Rio Grande Ballroom – Sponsored by Cytocell/Rainbow Scientific, Inc
2:45 – 4:15 pm Poster Session – Rio Grande Ballroom
All Scientific Sessions will take place in the Regency East Ballroom
8:00 – 8:15 am Welcome Address Charleen Moore – President and Patricia Howard-Peebles – Program Chair
Scientific Session 1: Constitutional Cytogenetics I
Moderators: Daniel Van Dyke and Jennifer Laffin
8:15 – 8:30 am 1 Chromosomal Breakpoints Target a Variety of Functional Elements in the Human Genome, Including Annotated, Unannotated, Coding and Non-Coding Transcriptional Regions. N. Tommerup, I. Bache, N.M. Nielsen, S. Kjaergaard, K. Brøndum-Nielsen, M. Frisch, A. Lind-Thomsen, Y. Mang, C. Hansen, A. Silahtaroglu, M. Kirchhoff, P.K.A. Jensen, C. Fagerberg, L.N. Krogh, J. Hansen, T. Bryndorf, Z. El-Schich, K.F. Henriksen, C.M. Anderson, M. Bak, C. Halgren 2
8:30 – 8:45 am 2 The Impact of Chromosomal Microarray on Clinical Management. L.B. Henderson*, E. Wohler, C.D. Applegate, D.A.S. Batista *Student presenter – Award winner
8:45 – 9:00 am 3 Microarray Analysis of X-Chromosome Aberrations in 45 Women with Highly Skewed X Inactivation and 45 Controls. V. Jobanputra, B. Levy, A. Kinney, S. Brown, M. Shirazi, C.-Y. Yu, J. Kline, D. Warburton
9:00 – 10:00 am 4 Weird Animal Genomes, Sex and the Future of Men Invited Speaker: Jennifer Marshall Graves Professor Emeritus, The Australian National University, Canberra, introduced by Art Brothman – Sponsored by Signature Genomics from PerkinElmer, Inc
10:00 – 10:30 am Coffee Break – Rio Grande Ballroom – Sponsored by Laboratory Corporation of America
10:00 – 10:30 am View Posters and Exhibits – Rio Grande Ballroom
Scientific Session 2: Constitutional Cytogenetics II
Moderators: Charles Lee and Jennifer Winters
10:30 – 10:45 am 5 Utility of SNP Arrays in Detecting, Quantifying, and Determining Meiotic Origin of Tetrasomy 12p in Blood from Pallister-Killian Patients. L.K. Conlin, K. Izumi, M. Kaur, D. Clark, A. Wilkens, E. Zackai, M.A. Deardorff, N.B. Spinner, I.D. Krantz
10:45 – 11:00 am 6 Small Recurrent Deletions and Reciprocal Duplications in 2q21.1, Including Brain Specific ARHGEF4 and GPR148, in Patients with Developmental Delay, ADHD, Autism, and Epilepsy. A.V. Dharmadhikari*, S.-H. L. Kang, P. Szafranski, R.E. Person, S. Sampath, S.K. Prakash, P.I. Bader, J.A. Phillips III, V. Hannig, M. Williams, S.S. Vinson, A.A. Wilfong, W.J. Craigen, J. Wiszniewska, A. Patel, W. Bi, J.R. Lupski, J. Belmont, S.W. Cheung, P. Stankiewicz *Student presenter – Award winner
11:00 – 11:15 am 7 Next Generation Approaches to the Analyses of Inversions. S.M. Bailey, E. Zimmerman, M.N. Cornforth, J.S. Bedford, E.H. Goodwin, F.A. Ray 3
11:15 –11:30 am 8 De Novo Copy Number Losses of Chromosomes 2q22.3q23.2 and 5q11.2q12.2 in a Female Patient with Clinical Features of Angelman Syndrome: A Case Report. A.D. Chaubey, F. Bartel, S.A. Skinner, B.R. DuPont
11:30 – 11:45 am 9 Maternal Uniparental Disomy of Chromosome 7 in a Patient with Myoclonus-Dystonia. M.B. Sheridan*, A.B. Telegrafi, V. Stinnett, T.M. Dawson, J. Bodurtha, D.A.S. Batista *Student presenter
11:45 – 12:00 pm 10 A Four Generation Family with Duplication of 17p13.3 with Variable Split-Hand/Foot Malformation. B.R. DuPont, A.D. Chaubey, F.O. Bartel, K.R. Holden, R. Alvarenga, D.K. Simpson, C.M. Armour, C.E. Schwartz, D.B. Everman
12:00 – 1:30 pm Lunch on your own – Exhibitor area is open to all attendees during lunch
Scientific Session 3: Non-Human Cytogenetics
Moderators: Katie Rudd and Marlys Houck
1:30 – 1:45 pm 11 Development and Application of Molecular Tools for Camelid Cytogenetics. F. Avila*, P.J. Das, M. Kutzler, E. Owens, P. Perelman, T. Raudsepp *Student presenter
1:45 – 2:00 pm 12 Polymorphism in the Location of Silver-Stained Nucleolus Organizing Regions and the 18S+28S Ribosomal Genes in North American Hylid Frogs. J.E. Wiley, H.S. Bonner
2:00 – 2:15 pm 13 Identification and Expression Analysis of Pig Pseudoautosomal Region using Molecular Cytogenetics Approach. P.J. Das*, D.K. Mishra, F. Avila, G. Johnson, B.P. Chowdhary, T. Raudsepp *Student presenter
2:15 – 2:30 pm 14 Devil Facial Tumour Disease: Does Chromosome 1 Hold the Key? J.E. Deakin, Y. Zhang
2:30 – 2:45 pm 15 Array CGH Studies in Equine Disorders of Sexual Development – SRY-Positive Sex Reversal and Cryptorchidism 4. S. Ghosh*, P.J. Das, Z. Qu, E. Fang, C. Arnold, D.L. Adelson, B.P. Chowdhary, T. Raudsepp *Student presenter
2:45 – 4:15 pm Coffee Break – Rio Grande Ballroom – Sponsored by Illumina, Inc
2:45 – 4:15 pm Poster Session and Exhibits – Rio Grande Ballroom
2:45 – 3:30 pm Authors present at odd numbered posters
3:30 – 4:15 pm Authors present at even numbered posters
Scientific Session 4: Cancer Cytogenetics I
Moderators: Daynna Wolff and Lynne Abruzzo
4:15 – 4:30 pm 16 Dicentric Chromosomes Are Frequent in Chronic Lymphocytic Leukemia (CLL). N.A. Heerema, H. Breidenbach, C. Miller, A. McFaddin, S. Haudenshield, N. Muthusamy, J.C. Byrd
4:30 – 4:45 pm 17 Diagnostic Application of High Resolution SNP Arrays for Children with Brain Tumors. J.J. Roth*, M.J. Dougherty, L.S. Tooke, A.F. Teplick, J.A. Biegel *Student presenter – Award winner
4:45 – 5:00 pm 18 Metaphase Induction in Multiple Myeloma: A New Cytogenetic Approach for G-Banding Analysis. F. Morato de Oliveira, A.P.N.R. Alves, E.M. Rego, R.P. Falcão
5:00 – 5:15 pm 19 Separation of Myeloid and T-Cells Prior to FISH Analysis in Blood Samples from Patients Undergoing Hematopoietic Stem Cell Transplantation. H. Aviv, S. Payne-Blackman, I. Maxwell, M. Osman
5:15 – 5:30 pm 20 A Comparison of FISH and Microarray Detection of Mosaicism in ALL, CLL, and MDS. M.C. Sederberg, G. Gu, C.N. Paxton, L.R. Rowe, K.B. Geiersbach, S.T. South
Distinguished Cytogeneticist Award Dinner – Regency East Ballroom
6:30 – 10:00 pm ACC 2012 Distinguished Cytogeneticist Award Dinner
Award Recipient: Janet Davison Rowley – Sponsored by Affymetrix, Inc 5
6:30 – 7:00 pm Cash Bar
7:00 – 8:30 pm Dinner
8:30 – 10:00 pm Award Presentation and Remarks
10:00 pm Session Closing
Saturday, April 21
7:00 – 9:00 am Continental Breakfast – Rio Grande Ballroom – Sponsored by Kreatech, Inc
7:00 am – noon Conference Registration – Los Rios Foyer
Scientific Session 5: Constitutional Cytogenetics III
Moderators: Hutton Kearney and Colleen Jackson-Cook
8:00 – 8:15 am 21 The Carolinas Array Group Database (CAGdb): A Platform-Independent Database of Microarray Findings Shared Across Multiple Institutions to Aid in Laboratory Data Management, CNV Interpretation and Submission to ISCA/NCBI ClinVar Datasets. H.M. Kearney, W.P. Allen, A. Chaubey, B.R. DuPont, K.A. Kaiser-Rogers, C.W. Rehder, S.T. South, J. Tepperberg, D.J. Wolff, J. Paschall, S. Lassiter, T.J. Hill
8:15 – 8:30 am 22 Insights from Prenatal Array CGH Analysis: Impact of Cell Culture on Results. J.M. Meck, L. Matyakhina, L. Schmidt, V. Nelson, S. Warren, K. Redford, G. Richard, S. Aradhya
8:30 – 8:45 am 23 Towards a Universal Database of Human Genomic Variation: Lessons Learned from the ISCA Consortium. E.R. Riggs, E.B. Kaminsky, V. Patel, W.A. Faucett, E. Thorland, D. Church, J. Paschall, L. Jackson, S. Aradhya, R. Kuhn, R. Nussbaum, H. Rehm, R. Wapner, D.H. Ledbetter, C.L. Martin
8:45 – 9:00 am 24 Somatic Mosaicism Detected by Exon-Targeted, High-Resolution aCGH in 10,362 Consecutive Cases. J. Pham, C. Shaw, P. Hixson, A. Ester, A. Pursley, S.S.-H. Kang, W. Bi, S. Lanani, C. Bacino, P. Stankiewicz, A. Patel , S.W. Cheung 6
9:00 – 10:00 am 25 Embryo and Fetal Diagnostics: The Power of SNP Microarrays Invited Speaker: Brynn Levy, Associate Professor, Center for Human Genetics Columbia University Medical Center, New York, N.Y. introduced by Jaclyn Biegel
10:00 – 11:00 am Coffee Break – Rio Grande Ballroom – Sponsored by Applied Spectral Imaging, Inc
10:00 – 11:00 am View Posters and Exhibits – Rio Grande Ballroom
Last chance to view posters and talk with exhibitors
Scientific Session 6: Cancer Cytogenetics II
Moderators: Sheila Dobin and Nyla Heerema
11:00 – 11:15 am 26 Detection of Masked Hypodiploidy in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia by Single Nucleotide Polymorphism Arrays. X.-Y. Lu, A. Patel, J. Ringrose, Y.-J. Zhao, P. Rao, S.E. Plon , K.R. Rabin
11:15 – 11:30 am 27 An Increased Frequency of Micronuclei in Lymphocytes is Associated with a Diagnosis of Breast Cancer and the Acquisition/Persistence of a Subset of Chemotherapy-Related Psychoneurologic Symptoms. N. Aboalela*, D. Lyon, R. Elswick, Y.-J. Chen, C. Jackson-Cook *Student presenter
11:30 – 11:45 am 28 Genomic Variability by Whole-Genome SNP Genotyping Predicts Time-To-Event Outcome in Previously Untreated Chronic Lymphocytic Leukemia (CLL) Patients. C.D. Schweighofer, K.R. Coombes, T. Majewski, L.L. Barron, S. Lerner, W.G. Wierda, A. Ferrajoli, S. O’Brien, L.J. Medeiros, B.A. Czerniak, M.J. Keating, L.V. Abruzzo
11:45 – 12:00 pm 29 Combination of Fluorescence In Situ Hybridization (FISH) and Cytogenetic Techniques Optimize the Diagnostic Process of Patients with Myelodysplastic Syndrome (MDS). L. Trakhtenbrot, D. Merkel, I. Novikov, A. Nagler, N. Amariglio
12:00 – 12:15 pm 30 Conventional Cytogenetic Analysis and FISH in Myelodysplastic Syndrome (MDS): Are Both Necessary? A.E. Wiktor, D.L. Van Dyke, R.P. Ketterling, C.A. Hanson
Afternoon on your own
12:30 pm Departure for optional activities (box lunch pickup) – Los Rios Foyer
6:30 – 11:00 pm Fiesta Buffet and Entertainment – Regency East Ballroom – Sponsored by Quest Diagnostics Nichols Institute
Sunday, April 22
7:00 – 9:00 am Continental Breakfast – Regency East Ballroom Foyer – Sponsored by Abbott Molecular
8:15 – 8:45 am ACC Business Meeting – Regency East Ballroom With student award presentations and 2014 ACC
Scientific Session 7: Cancer Cytogenetics III
Moderators: Sarah South and Jaclyn Biegel
8:45 – 9:00 am 31 Transient Clonal Cytogenetic Abnormalities Following Chemotherapy for Acute Leukemia. F. Racke, N. Heerema
9:00 – 9:15 am 32 Constitutional t(16;21)(p13;q22) Identified by FISH and Next-Generation Genome-Wide Long Mate-Pair Sequencing Analysis as a Novel Pathogenomic Mechanism in a Series of Three New RUNX1 Mutated FPD/AML Pedigrees: Implications for Diagnostics. A. Buijs, M. Poot, S. van der Crabben, B. van der Zwaag, E. van Binsbergen, M.J. van Roosmalen, M. Tavakoli-Yaraki, O. de Weerdt, H.K. Nieuwenhuis, M. van Gijn, W.P. Kloosterman
9:15 – 9:30 am 33 Comparison of Two Microarray (aCGH) Platforms to Assess Global Genomic Status in B-Chronic Lymphocytic Leukemia (CLL). J.G. Rustin, D.L. Van Dyke, S.A. Smoley, E.C. Thorland, E. Braggio, N.E. Kay
9:30 – 9:45 am 34 Genomic Profiling of Rare Disseminated Tumor Cells from Prostate Cancer. M. Fang, J. Schoenborn, J. Xia, C. Morrissey, P. Nelson, R. Vessella
9:45 – 10:00 am 35 Genomic Microarray Analysis provides an Excellent Genetic Assessment for Oncology: Preliminary Results of the Cancer Cytogenomics Microarray Consortium’s Cross-Platform Study 8. D.J. Wolff, J. Biegel, J. Hagenkord, V. Jobanputra, J. Laffin, B. Levy, M.M. Li, P.M. Miron, F. Monzon, G. Toruner, M. Rossi, I. Znoyko, L. Tooke, D. Wilmoth, M. Dougherty, S. Kash, V. Aggarwal, O. Nahum, P. Chen, X. Hu, M. Cipollini, K. Alvarez, D. Streck
10:00 –11:00 am 36 Insights into the Biology of Acute Leukemia from Genomic Profiling and Next-Generation Sequencing. Invited Speaker: Charles G. Mullighan, Associate Member, Department of Pathology St. Jude Children’s Research Hospital, Memphis, TN, introduced by Robert Best
11:00 – 11:30 am Coffee Break – Regency East Ballroom Foyer – Sponsored by Agilent Technologies
Scientific Session 8: Constitutional Cytogenetics IV
Moderators: Denise Batista and Janice Smith
11:30 – 11:45 am 37 Cytogenetic Biodosimetry: A Nuclear Countermeasures Strategy for the U.S. G.K. Livingston, D.L. Van Dyke
11:45 – 12:00 pm 38 Alterations in the CDKL5 and MECP2 Genes in Patients with Atypical Phenotypes. H. Mason-Suares*, C.L. Martin, M.K. Rudd *Student presenter
12:00 – 12:15 pm 39 Adult Identical Twins Discordant for a History of Childhood Sexual Abuse Show Higher Frequencies of Acquired Chromosomal Changes in the Abused Twins. J. Brumelle*, T.P. York, J. Juusola, C. Jackson-Cook *Student presenter
12:15 – 12:30 pm 40 Microarray Analysis Reveals Mosaicism for Two Abnormal Cell Lines in Patient with Previously Diagnosed Chromosome 9p Deletion. D.I. Quigley, M.I. Dewitt, V. J. Payne, O.A. Lamb, C. Miranda, D.K. Simpson
12:30 – 12:45 pm 41 High Density SNP Microarray Analysis of Products of Conception. K.B. Geiersbach, C.N. Paxton, A.N. Lamb, A.R. Brothman, S.T. South
12:45 – 1:00 pm 42 SNP POC Microarray Analysis – Primary Cytogenetic Test for POC 9. J. Tepperberg, H. Taylor, R.D. Burnside, B. Rush, I.K. Gadi, V. Jaswaney, E. Keitges, R. Pasion, K.L. Phillips, V.R. Potluri, H. Risheg, S. Schwartz, J.L. Smith, P.R. Papenhausen
1:00 pm Adjournment