Abstracts from this meeting are available in the May issue of Cancer Genetics, volume 209, issue 5, pages 229-249 and online here. Additionally, each abstract is fully searchable on ScienceDirect and PubMed.


44th American Cytogenetics Conference

Sunriver Resort Sunriver, OR June 27-30, 2016


2016 Scientific Program
Monday, June 27

12:00 – 2:00 pm ACC Board Meeting – Fremont Room, Main Lodge

2:00 – 7:00 pm Conference Registration – Fireside Gallery

12:00 – 4:00 pm Exhibit Registration – Homestead Exhibit Hall
Exhibit Setup – Homestead Exhibit Hall
Poster Setup – Homestead Exhibit Hall

5:30 – 7:30 pm Opening Reception – Homestead Exhibit Hall
Supported by Affymetrix, Inc.

Tuesday, June 28

7:00 – 8:00 am Breakfast – Homestead Exhibit Hall
Supported by Applied Spectral Imaging

7:00 – 10:00 am Poster Setup – Homestead Exhibit Hall

7:00 am – 5:30 pm Conference Registration – Fireside Gallery

7:00 am – 5:30 pm Exhibits Open – Homestead Exhibit Hall
Please visit the booths, especially during session breaks, lunch breaks, and the poster session.

4:00 – 5:30 pm Poster Session – Homestead Exhibit Hall

All Scientific Sessions will take place in The Great Hall Main Floor

8:00 – 8:15 am Welcome and Announcements
Denise Quigley – ACC President and 2016 Conference Chair
Yassmine Akkari – 2016 Program Chair

Scientific Session 1: Constitutional Cytogenetics
Moderators: Ferrin Wheeler and Marsha Speevak

8:15 – 8:30 am 1. Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X). Hiba Risheg, Jim Tepperberg, Romela Pasion, Elizabeth Starkey, Briana Lubben, Whitney Neufeld-Kaiser, Yajuan J Liu

8:30 – 8:45 am 2. Chromosomal Microarray as a First Tier Test Following Diagnostic Prenatal Procedure. The Toronto Mount Sinai Hospital Experience. Elena Kolomietz, Nada Alayed, Nan Okun, David Chitayat, Abdul Noor

8:45 – 9:00 am 3. Complex Cases: Putting it All Together Using the Tools in Your Toolbox (Microarray, FISH and Chromosome Analysis). Teresa A Smolarek, Stephanie Balow, Xia Li, Bianca Russell, Leandra Tolusso, Lisa M Dyer, Howard M Saal

9:00 – 9:15 am 4. Assessing Copy Number Variants Involving ACMGG Secondary Finding Genes Identified by Routine Chromosomal SNP Array in a Clinical Pediatric Population. Jinbo Fan*, Surabhi Mulchandani, Matthew Dulik, Jinyun Chen, Adam Gleason, Pushkala Jayaraman, Mahdi Sarmady, Elaine Zackai, Minjie Luo, Nancy Spinner, Laura Conlin
*Student award recipient

9:15 – 9:30 am 5. Clinical Impact of Genomic Duplications: A Discussion of Reporting Practices. Cherisse A Marcou*, Beth Pitel, Binu Porath, Umut Aypar, Nicole L Hoppman, Erik C Thorland, Hutton M Kearney
*Student award recipient

9:30 – 9:45 am 6. Re-examination of Danish Carriers of Balanced Chromosomal Inversions. Malene B Rasmussen, Iben Bache, Mana M Mehrjouy, Asli Silahtaroglu, Susanne Kjærgaard, Karen Brøndum-Nielsen, Peter KA Jensen, Ida Vogel, Jens Michael Hertz, Christina Fagerberg, Anders Bojesen, Michael B Petersen, Jan Hansen, Christina Halgren, Mads Bak, Niels Tommerup

9:45 – 10:00 am 7. Evaluation of a Cystic Placenta: Spectrum of Genomic Changes Including GRB10 Microdeletion. Urvashi Surti, Svetlana Yatsenko, Jie Hu, Daniel Bellissimo, W Tony Parks, Lori Hoffner

10:00 – 10:30 am Morning Break – Homestead Exhibit Hall
Sponsored by Conversant Bio

View Posters and Exhibits

Scientific Session 2: Cancer Cytogenetics
Moderators: Barb Dupont and Steve Moore

10:30 – 10:45 am 8. Is Intrachromosomal Amplification of Chromosome 21 (iAMP21) Always Intrachromosomal? Karen Tsuchiya, Billy Davis, Rebecca Gardner

10:45 – 11:00 am 9. Cytogenetics of Infant/Congenital Leukemia: Mayo Clinic Experience From 2005-2015. Yang Cao, Cindy Williamson, Reid Meyer, Kate Pearce, Chris Sattler, Bill Sukov, Patricia Greipp, Rhett Ketterling

11:00 – 11:15 am 10. Correlating Copy Number Alterations in Dedifferentiated Liposarcoma With Tumor Behavior and Patient Outcome.
Yajuan Liu

11:15 – 11:30 am 11. The Use of Next Generation Sequencing in the Evaluation of Myeloid Neoplasms: A Comparison with Cytogenetics. Eli S Williams, Mani S Mahadevan, Wendy L Golden

11:30 – 11:45 am 12. Cytogenetic Studies Supporting the Development of New Immunotherapy for B-cell Acute Lymphoblastic Leukemia. Vania Aikawa, Marco Ruella, Saar Gill, Jennifer Morrissette

11:45 – 12:00 pm 13. Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies. Stuart Schwartz, Romela Pasion, Huong Cabral, Inder Gadi, Vik Jaswaney, Andrea Penton, Karen Phillips, Laura Kline, Sharon Molinari, Margriet Johansen, Jenny Shafer, Rachel D Burnside, James Tepperberg, Brian Williford, Peter Papenhausen

12:00 – 1:30 pm Lunch Buffet – Homestead Exhibit Hall

Scientific Session 3: Cancer Cytogenetics
Moderators: Brynn Levy and Holli Drendel

1:30 – 1:45 pm 14. Interpreting Complex SNP-array Results in Tumors: Clues Invoking Classical Cytogenetic Mechanisms. Ross A Rowsey*, Patricia T Greipp, Robert B Jenkins, Hutton M Kearney
*Student award recipient

1:45 – 2:00 pm 15. New Genetic Alterations in Pediatric Acute Lymphoblastic Leukemia Uncovered by Chromosomal Microarray Analysis. Shannon Gaskin, Trisha Marsh, Morgan Armitage, Donna Blackwell, Devon Lopetrone, Yiping Wang, Yassmine Akkari

2:00 – 2:15 pm 16. Next Generation Cytogenetics: Genome-wide Mate Pair Sequencing for Detection of Structural Rearrangements and Copy Number Variation. Umut Aypar, Hutton Kearney, William Sukov, Robert Jenkins, Nicole Hoppman

2:15 – 2:30 pm 17. It’s Not You, It’s Me: Somatic and Germline Mutations Detected Through Routine Clinical Testing. Jennifer Morrissette, Dana Farengo Clark, Jacquelyn Powers, Susan Domchek, Katherine Nathanson, David Lieberman

2:30 – 3:00 pm Afternoon Break – Homestead Exhibit Hall
Sponsored by Laboratory Corporation of America
View Posters and Exhibits

3:00 – 4:00 pm 18. TBD
Invited Speaker: Daniel Pinkel, PhD
Introduction by Susan Olson

4:00 – 5:30 pm Poster Session and Exhibits – Homestead Exhibit Hall

4:00 – 4:45 pm Authors present at odd numbered posters
4:45 – 5:30 pm Authors present at even numbered posters

Distinguished Cytogeneticist Award Dinner – The Great Hall
Supported by Qiagen

6:30 – 10:00 pm ACC 2016 Distinguished Cytogeneticist Award Dinner
Award Recipient: Dr. Kathleen Rao

6:30 – 7:00 pm Meet & Mingle (cash bar), Appetizers

7:00 – 8:30 pm Dinner

8:30 – 10:00 pm Award Presentation and Remarks

10:00 pm Session Closing

Wednesday, June 29

7:00 – 8:00 am Breakfast – Homestead Exhibit Hall
Supported by Leica Biosystems

7:00am – 12:00 pm Conference Registration – Fireside Gallery

7:00 am – 1:00 pm Exhibits Open – Homestead Exhibit Hall
Please visit the booths, especially during session breaks, lunch breaks, and the poster session.

Scientific Session 4: Cancer Cytogenetics
Moderators: Rhett Ketterling and Teresa Smolarek

8:00 – 8:15 am 19. The ABL and JAK Tyrosine Kinase Pathways May be Co-activated in a Subset of BCR/ABL1 Positive Acute Lymphoid Leukemia. Hana Aviv

8:15 – 8:30 am 20. MYC Gene rearrangement in Plasma Cell Neoplasms. Julie Sanford Biggerstaff, Autumn Dlugas Keri Banner, Marshall Priest, Lalita Martinez, Puvieng Boonsom

8:30 – 8:45 am 21. Characterization of Chromosome Translocation Breakpoints in Leukemia Using Whole Genome Mate-Pair Sequencing. Zhongxia(Joe) Qi, Jingwei Yu

8:45 – 9:00 am 22. SH2B3 Aberrations Enriched in iAMP21 B Lymphoblastic Leukemia Cohort. Linda Baughn, Matthew Meredith, Betsy Hirsch

9:00 – 10:00 am 23. What Elephants Can Teach Us About Preventing Cancer In Humans
Invited Speaker: Joshua D. Schiffman, MD
Introduction by Catherine Rehder

10:00 – 10:30 am Morning Break – Homestead Exhibit Hall
Sponsored by Leica Biosystems

View Posters and Exhibits

Scientific Session 5: Constitutional Cytogenetics
Moderators: Sarah South and Jennifer Sanman

10:30 – 10:45 am 24. Four Generation Family with a Complex Insertion of 16q in 4p. Barbara R DuPont, Abbas Padeganeh, Curtis Rogers, Alka Chaubey, Roger E Stevenson

10:45 – 11:00 am 25. A Rare Case of Russell-Silver and 1p36 Deletion Syndromes. Donna Blackwell, Shannon Gaskin, Trisha Marsh, Yassmine Akkari

11:00 – 11:15 am 26. Why Chromosomes Are Relevant. Athena M Cherry, Jesse M Williams, Jr, Yuen Cho, Rong Luo, Dana Freebury, Charles D Bangs

11:15 – 11:30 am 27. Rare Focal Deletions Involving SNRPN and UBE3A Genes. Jeanne Meck, Daniel Pineda-Alvarez, Dongli Huang, Stephen Braddock, Mohammed Al Balwi, Jessica Niet, Brenda Cristina Rios Valdez, Dianalee McKnight, Courtney Downtain, G Shashidhar Pai, Leigh D deHoll, Ludmila Matyakhina

11:30 – 11:45 am 28. An Isogenic Trisomic-disomic Model System Using Cells From People With Mosaic Down Syndrome Unmasks Trisomy 21 Associated Increases in Age-related Chromosomal Instability, Senescence Associated Distension of Satellites, and Telomere Shortening. Kelly Rafferty*, Chariyawan Charalsawadi, Colleen Jackson-Cook
*Student presenter

11:45 – 12:00 pm 29. Non-Invasive Prenatal Screening of Over 200,000 Tests Performed at Natera. Susan Zneimer

12:00 pm Departure for optional activities*
Box lunches will be distributed at transportation boarding sites to those participating in the optional group activities.
*Requires advance registration

Afternoon on your own – please enjoy Sunriver!

6:30 – 11:00 pm Buffet and Entertainment – Great Hall

Thursday, June 30

7:00 – 8:00 am Breakfast– Homestead Exhibit Hall
Supported by Illumina

8:00 – 8:30 am ACC Business Meeting
2018 ACC Meeting Announcement – Great Hall
Student Award Presentations

8:30 – 9:30 am 30. Precision Medicine for Autism and Related Developmental Brain Disorders
Invited Speaker: David Ledbetter, PhD
Introduction by Yassmine Akkari
Supported by Agilent Technologies

9:30 – 10:00 am Morning Break – Homestead Exhibit Hall
Sponsored by G-A-T-A Have Help
View Posters and Exhibits

Scientific Session 6: Constitutional Cytogenetics
Moderators: Dan Van Dyke and Hutton Kearney

10:00 – 10:15 am 31. Microarray and Next Generation Sequencing: Complementary Technologies for Diagnosing Autosomal Recessive Disorders. Alka Chaubey, Michael J Friez, Barbara R DuPont

10:15 – 10:30 am 32. Unexpected Chromosomal Abnormalities Identified by CMA Confirmation Studies. Sau W Cheung, Amber N Pursley, Farah A Ladha , Roger H Song, Stephanie A Anderson, M Lance Cooper, Chad Shaw, Carlos A Bacino, Ankita Patel

10:30 – 10:45 am 33. Gamification of Chromosome Identification: Creation of a Software Tool to Introduce Cytogenetic Analysis. Cate Randall Paschal*, Kimberly Anderson, Angela M Lager, Kate Thompson, Jennifer Laffin
*Student Presenter

10:45 – 11:00 am 34. Exon-targeted Array CGH for Identification of Clinically Relevant Small-sized, Intragenic CNVs. Ankita Patel, J. Rosenfeld-Mokry, T. Gambin, P. Liu, W. Bi, A. Breman, J. Smith, S. Lalani, C. Bacino, A.L. Beaudet, J.R. Lupski, C.A. Shaw, S.W. Cheung, P. Stankiewicz

11:00 – 11:15 am 35. Inheritance and phase determination in a patient with Early Onset Parkinson Disease and two PARK2 deletions. Eli S. Williams, MJ Barrett, R Dhamija, L Toran, C Chambers, MS Mahadevan, WL Golden

11:15 – 11:30 am 36. Development of a chromosomal microarray test for the detection of abnormalities in formalin-fixed paraffin-embedded products of conception specimens. Troy J Gliem and Umut Aypar

11:30 – 12:00 pm In Memorium: A Tribute to Lauren Jenkins

12:00 – 12:30 pm ACC 2016 Final Remarks and Adjournment
Denise Quigley, ACC 2016 President
Yassmine Akkari, ACC 2016 Program Chair
Sarah South, ACC 2018 President