41st American Cytogenetics Conference

Crowne Plaza Hotel Niagara Falls, Ontario, Canada  May 13-16, 2010


Scientific Program

Thursday, May 13

Noon – 1:30 pm                 ACC Board Meeting

2:30 – 5:00 pm                   Exhibitor Registration and set up

3:00 – 6:00 pm                   Conference Registration

5:30 – 7:00 pm                   Opening Reception – Sponsored by LabCorp and PerkinElmer


Friday, May 14

7:00am – 12:00 pm          Conference Registration

7:00 am – 6:00 pm            Exhibitors open

3:00 – 6:00 pm                   Poster session

7:00 – 9:00 am                   Continental Breakfast – Sponsored by Genetics Associates

8:00 – 8:15 am                  Welcome Address: Avirachan Tharapel – President and Susan Zneimer – Program Chair


Scientific Session 1:         Constitutional Cytogenetics I

Moderators: Colleen Jackson-Cook and Kristin Deak

8:15 – 8:30 am                   1 Recurrent Chromosomal Translocations Mediated by Genomic Interchromosomal NAHR. S-H Kang, Z Ou, P Stankiewicz, AM Breman, J Wiszniewska, MLCooper, L Shao, ST South, K Coleman, PM Fernhoff, MJ Deray, S Rosengren, ER Roeder,   VB Enciso, A Patel, AC Chinault, JR Lupski, SW Cheung

8:30 – 8:45 am                   2 Complex Rearrangements Require Complex Analysis by Array, FISH and Karyotype. X Li*, LK Conlin, S Mulchandani, B Thiel, M Deardorff, E Zackai, M Falk, H Hakonsarson, N Spinner  *Student presentation

8:45 – 9:00 am                   3 All Four Common Segregants of a Familial Balanced Translocation in Liveborn Quadruplets. ST South, L Rowe, D LaGrave, R Vanzo, J Carey

9:00 – 10:00 am                4 Comparative Cytogenetics  Invited Speaker: Oliver Ryder, Adjunct Professor, University of California at San Diego, Director, San Diego Zoo’s Institute for Conservation Research, introduced by Susan Zneimer

10:00-10:30 am Coffee Break – Sponsored by Blue Gnome Unlimited


Scientific Session 2:         Constitutional Cytogenetics II

Moderators: Athena Cherry and Yassmine Akkari

10:30 – 10:45 am              5 Prenatal Array CGH Testing: Managing “Abnormal” Results. DI Quigley, AC Holt, CL Beattie, PB Jacky

10:45 -11:00 am 6 Detection of Homozygosity using SNP Based Microarrays: Case Reports and Lessons Learned. HM Kearney, C Wilson-Brackett, C Shanahan, SF Roberts, K Crandall, JB Kearney, WP Allen, E Boyd

11:00 – 11:15 am               7 Delineating Chromosomal Regions with Complex Architectures using Single and Low Copy FISH Algorithms. WA Khan, JHM Knoll, PK Rogan

11:15 -11:30 am 8 Analysis of Products of Conception by Microarray Analysis. JL Smith, S Schwartz, J Tepperberg, PH Papenhausen

11:30-11:45 am                  9 Development of LOINC for Integrating Constitutional Cytogenetic Test Result Reports into Electronic Medical Record. Y Heras*, AR Brothman, MS Williams, JA Mitchell, SM Huff  *Student Presentation

11:45-12:00 pm                 10 New ACMG Laboratory Guideline for Turner Syndrome: Positive Impact on Patient Care at MUSC. DJ Wolff

12:00-1:30 pm       Lunch on your own – Exhibitor area is open to all attendees during lunch


Scientific Session 3:         Cancer Cytogenetics I

Moderators: Peter Jacky and Cheryl DeScipio

1:30 – 1:45 pm                   11 An Act of Generosity Turned into a Quandary by Unexpected Mosaicism: Case Report of Constitutional Trisomy 8 Mosaicism in a Healthy Bone Marrow Donor. N Uddin, MS Williams, ST South

1:45 – 2:00 pm                   12 Detection of Cytogenetic Abnormalities by Fluorescent in situ Hybridization (FISH) after Isolation of Plasma Cells. H Aviv, I Maxwell, C Creese, K Vassallo

2:00 – 2:15 pm                   13 Apparently Novel EWSR1 Gene Rearrangements Detected Two Astroblastomas. K Craddock*, I Sorokin, G Nie, M Zielenska, W Halliday, M Shago  *Student presentation

2:15 – 2:30 pm                   14 Characterization of Uncommon BCR and ABL1 Breakpoints in 3 Cases of Chronic Myelogenous Leukemia. FC Wheeler*, K Kaiser-Rogers, K Muldrew, ML Gulley, KW Rao  *Student presentation

2:30 – 2:45 pm                   15 Chromosome Kissing and Cancer. BL Flynn*, E Pizzo, J Crivello, J Brown  *Student presentation

2:45 – 3:00 pm                   16 Stimulation of Chronic Lymphocytic Leukemia (CLL) Cells with CpG Oligodeoxynucleotides (ODN) Gives Consistent Karyotypic Results among Laboratories: a CLL Research Consortium (CRC) Study. NA Heerema, JC Byrd, P Dal Cin, ML Dell’Aquila, P Koduru, A Aviram, S Smoley, LZ Rassenti, A Greaves, JR Brown, KR Rai, TJ Kipps, NE Kay, D van Dyke

3:00 – 3:30 pm     Coffee Break – Sponsored by Genetix Corp

3:00 – 6:00 pm     View posters and exhibits


Distinguished Cytogeneticist Award Dinner

7:00 – 10:00 pm ACC 2008 Distinguished Cytogeneticist Award Dinner

Award Recipient: Dr. Gordon Dewald – Sponsored by Abbott Molecular


Saturday, May 15

7:00 – 8:30 am                   Continental Breakfast – Sponsored by Cytocell/Rainbow Scientific, Inc.

7:00 – 12:30 pm Conference Registration

10:00 – 11:00 am               Poster session


Scientific Session 4:         Cancer Cytogenetics II

Moderators: Charleen Moore and Laura Conlin


8:00 – 8:15 am                   17 Heterogeneous MLL Abnormalities in 509 consecutively Newly Diagnosed Pediatric Acute Leukemias. X-Y Lu, M Folsom, M Azim, J Ringrose, S Plon, C Lau, C Steuber, J Margolin, K Rabin, P Rao

8:15 – 8:30 am                   18 Molecular Study of Complex Karyotypes in Bone Marrow Cells of Patients with Myelodysplastic Syndromes (MDS). Z Zemanova, K Michalova, J Brezinova, L Lizcova, S Izakova, D Bystricka, I Sarova, M Siskova, O Cerna, J Cermak

8:30 – 8:45 am                   19 Emerging Data using aTargeted Oligo-Based Microarray in the Myelodysplastic Syndromes Reveal Provocative Complexity and New Recurrent Genetic Aberrations. ML Slovak, T Brown, J-Y Han, LJ Campbell, M Wall, LG Shaffer, B Ballif, R Schultz

8:45 – 9:00 am                    20 Implementation of a High Density SNP Array with Cytogenetic and Molecular Techniques for the Characterization of Genetic Aberrations in a Patient with CML and Resistance to Imatinib Mesylate. R Toydemir, L Rowe, M Hibbard, M Salama, S Shetty

9:00 – 10:00 am                21 Defining the Molecular Cytogenetic Landscape of Cancer Using Array Based Technologies. Invited Speaker: Norma Nowak Director, DNA Microarray and Genomics Facility, Roswell Park Cancer Institute, introduced by Ann Marie Block – Sponsored by Illumina, Inc.

10:00 – 11:00        Coffee Break – Sponsored by Roche Applied Sciences

10:00 – 11:00        View posters and exhibits


Scientific Session 5:         Cancer Cytogenetics III

Moderators: Debra Saxe and Stephen Moore

11:00- 11:15 am                22 Genomic Alterations in Breast Cancer Cell Lines and Mouse Xenograft Models from Fresh Human Tumors. M Herrler, W Ke, J Stanchfield, H Zhang, G Deng, SS Jeffrey

11:15 – 11:30 am               23 Implementation of High Resolution SNP Array Analysis in the Clinical Cancer Cytogenetics Laboratory. J Biegel, D Wilmoth, L Wainwright, L Tooke, M Dougherty

11:30 – 11:45 am               24 High Resolution Genome-wide Chromosomal Microarray Analyses of Matched Tumor and Germline DNA in Multiple Myeloma. S Kulkarni, V Hucthagowder, M Evenson, C Mullins, M Fiala, M Tomasson, R Vij

11:45 – 12:00 pm               25 From Chromosomes to FISH to aCGH: Genomic Approaches to Study Chronic Lymphocytic Leukemia. YJ Liu

12:00 – 12:30 pm             Discussion on Cancer Microarrays


Afternoon on your own

1:00 pm                                Departure for optional activities

6:30 – 10:00 pm                Dinner and Entertainment


Sunday, May 16

7:00 – 9:00 am                   Continental Breakfast – Sponsored by Baylor College of Medicine Medical Genetics Labs

8:00 – 8:30 am                   ACC Business Meeting With student award presentations


Scientific Session 6:         General Microarray Analysis

Moderators: Barbara DuPont and Jillene Kogan

8:30 – 8:45 am                  26 Interpretation of Microarray Results: A Point System to Discriminate Benign, Unknown Significance and Copy Number Changes. DAS Batista, E Wohler, S Morsey, J Biscoe, L Wo, N Jinawath

8:45 – 9:00 am                   27 Leveraging Genotype Information from SNP Microarrays for Cytogenetic Purposes. V Aggarwal*, O Nahum, E Carron, D Warburton, V Jobanputra, B Levy  *Student presentation

9:00 – 9:15 am                   28 CNV and Regions of Homozygosity Identified by SNP Array: Difficulties in Elucidating Clinical Significance. E Wohler*, N Jinawath, A Hamosh, J Hoover-Fong, A Elias, D Valle, D Batista  * Student presentation

9:15 – 9:30 am                   29 Subtelomeric CNV: Mechanisms of Chromosome Repair. K Rudd, Y Luo, K Hermetz

9:30 – 9:45 am                   30 Towards a CNV Atlas for Human Development. CL Martin, EB Kaminsky, B Bunke, D Kunig, V Kaul, K Huang, D Saul, DL Pickering, DM Golden, E Aston, TJ Gliem, T Ackley, S Huang, JC Barber, JA Crolla, R Iyer, EC Thorland, AR Brothman, W Sanger, MR Rossi, MK Rudd, S Aradhya, DH Ledbetter

9:45 – 10:00 am                 31 Next Generation Sequencing (NGS) in Mendelian Cytogenetics. N Tommerup, SC Minocherhomji, L Klitten, L Nazaryan, R Buonincontri, RS Møller, H Hjalgrim, KF Henriksen, HM Nielsen, I Bache, A Silahtaroglu, C Hansen, M Bak

10:00 -11:00 am                32 Human Genome Structural Variation: From Cytogenetics to Sequence Invited Speaker: Evan Eichler, Principal Investigator and Professor, Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, introduced by Urvashi Surti

11:00 – 11:30 pm             Coffee Break – Sponsored by Roche Applied Sciences


Scientific Session 7:         Cytogenetics III

Moderators: John Wiley and Gordana Raca

11:30 – 11:45 am               33 Mosaic Trisomy 13: Understanding the Origin using SNP Array. N Jinawath*, R Zambrano, E Wohler, D Batista  * Student presentation

11:45 – 12:00 pm              34 Increasing the Yield and Accuracy of Karyotypes from Spontaneous Abortion Specimens. V Jobanputra, C Esteves, A Sobrino, S Brown, J Kline, D Warburton

12:00 – 12:15 pm              35 Variable Mechanisms of Chimera Formation Identified by SNP Array Analysis. LK Conlin, BD Thiel, S Mulchandani, DN Hartung, L Medne, E Zackai, CG Bonnemann, BK Burton, MA Deardorff, HH Akonarson, NB Spinner

12:15 – 12:30 pm              36 SNP Microarray Analysis offers New Insights into the Accuracy of FISH Diagnostics in Preimplantation Embryos. B Levy, LE Northrop, NR Treff, RT Scott Jr.

12:30 – 12:45 pm              37 SNP Microarray Detects Mosaic Segmental Uniparental Isodisomy in Three Cases. TA Smolarek, K Lipscomb Sund, HM Saal, R Hopkin, L Bao, SL Zimmerman

12:45 – 1:00 pm 38 Molecular Characterization of Chromosome Aberrations in 146 Patients with Phelan-McDermid Syndrome by Array-CGH. BR DuPont, A Dwivedi, L Boccuto, RC Rogers, K Phelan

1:00 – 1:15 pm                   ACC 2012 and Adjournment