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