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