40th Biennial American Cytogenetics Conference

Portola Plaza Monterey, California  April 10th–13th, 2008


Scientific Program

Thursday, April 10

2:30–5:30 pm                     ACC Board Meeting

2:30–7:00 pm                     Conference Registration

5:30–7:00 pm                     Opening Reception – Sponsored by Agilent Technologies


Friday, April 11

7:00 am–12:00 pm           Conference Registration

7:00 am – 1:00 pm            Exhibitors open

7:00–9:00 am                     Continental Breakfast – Sponsored by Quest Diagnostics

7:55–8:00 am                     Welcome Address: Lauren Jenkins – President


Scientific Session 1:         Constitutional Cytogenetics

Moderators: Susan Olson and Ankita Patel

8:00–8:10 am                     1 Molecular, Clinical and Cytogenetic Characterization of a Newly Described Microdeletion Syndrome at 22q11.2 That Involves the Loss of the BCR Gene. L. Jenkins, E. Chen, K. Tezcan and A. Slavotinek

8:10–8:20 am                     2 Complexity of 22q11 Rearrangements Detected by Oligonucleotide Microarray. A.G. Mitchell, G. Richard, J. Dorson, J.G. Compton and S. Aradhya

8:20–8:30 am                     3 Three Cases of dup17p Revealed by CGH Microarray. B.R. DuPont, B. Griggs, A. Hunter, R. Schroer and M. Lyons

8:30–8:40 am                     4 Terminal 12p Deletion in a Newborn and the Overlap of Clinical Features Previously Reported in This Rare Deletion. J. LeRoux, K. Swisshelm, H. Rost, M. Springer and M. Kohn

8:40–8:50 am                     5 Interstitial Xp22.31 Duplication Detected by Array CGH in a Newborn with Congenital Heart Defect and Dysmorphic Features. F. Li * , M. Palmquist, S.A. Morsey, J. Biscoe, E. Squibb, J. Chinsky and D.A.S. Batista * Student Award Recipient

8:50–9:00 am                     6 Karyotype-Phenotype Correlation for Down Syndrome: A Study of Mosaicism for Trisomy 21. P. Papavassiliou * , T. York, U.T. Sundaram, N. Gursoy, G. Hill, B. Riley and C. Jackson-Cook * Student Award Recipient

9:00–9:10 am                     Question & Answer (Q & A)

9:10–10:00 am                   7 Expression of Phenotype in a Diploid Genome. Invited Speaker: Steve Scherer, Ph.D. The Centre for Applied Genomics, Hospital for Sick Children and University of Toronto, introduced by Daynna Wolff – Sponsored by GeneDx

10:00–10:20 am Coffee Break – Sponsored by Signature Genomics


Scientific Session 2:         Cancer Cytogenetics

Moderators: Urvashi Surti and Catherine Rehder

10:20–10:30 am 8 MLL Amplification in Acute Leukemia: Including One Case of T-ALL. D.I. Quigley and D.J. Wolff

10:30–10:40 am 9 Amplification of ABL1 in T-Cell Acute Lymphoblastic Leukemia: Report of a New Case and Review of the Literature. A.M. Meloni-Ehrig, J. Jahn, J. Scheerle, S. Revis, J. Zgoda, T. Tchen, D.A. Cipkala, L.J. Ettinger, E.S. Gamboa, J. Kelly, J. Meck, N. Christacos and P.N. Mowrey

10:40–10:50 am 10 Minimally Differentiated Acute Myeloid Leukemia (AML-M0) and t(8; 14) with Single IGH-cMYC Fusion on the der(8). G.V.N. Velagaleti, C. Holladay, J. Youhas, R. Wang, K. Lundberg, D. Cherry and R.P. Ketterling

10:50–11:00 am 11 Two New Cases of Translocation Involving NUP98 in AML Patients. H. Bruyère, D.E. Horsman, K. Chipperfield, D. Forrest, M. Hudoba de Badyn, K.W. Song and R.K. Humphries

11:00–11:10 am 12 Segmental Jumping Translocations: A Review of a Rare Rearrangement Involved in Clonal Evolution and Disease Progression in Leukemias and Lymphomas. P. Singh-Kahlon and C.F. Stephenson

11:10–11:20 am 13 Frequency of 5’IGH Deletions in B-Cell Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL). F. Nooraie, F. Quintero-Rivera and P.N. Rao

11:20–11:30 am 14 Chronic Lymphocytic Leukemia (CLL) Patients with High-Risk Cytogenetics Respond to Treatment with Flavopiridol: Study of 120 Patients with Relapsed, Genetically High Risk CLL. N.A. Heerema, T.S. Lin, B. Fischer, G. Lozanski, K.A. Blum, L.A. Andritsos, J.A. Jones, J.M Flynn, M.E. Moran, S.M. Mitchell, L.J. Schaaf, A.J. Johnson, L.L. Smith, A.J. Wagner, C.A. Raymond, M. Phelps, J.T. Dalton, M.R. Grever and J.C. Byrd

11:30–11:40 am 15 Idiopathic Myelofibrosis with Ring Chromosome 10 Leading to Deletion of PTEN in a 21 Month Old Female. J. Kelly, A.M. Meloni-Ehrig, J. Jahn, J. Scheerle, L. Matyakhina, M. Motz, N. Shahabazi, J. Ramdas, K. Zhang, P. Dorion, J. Meck, N. Christacos and P.N. Mowrey

11:40–11:50 am 16 Black Tea ( Camellia sinensis) as a Chemopreventive Agent in Oral Leukoplakia. A. Halder, R. Raychowdhury, U. Das and M. De

11:50–12:00 pm                Q & A

12:00–1:30 pm         Lunch on Your Own


Scientific Session 3:         FISH Methodology

Moderators: Arthur Brothman and Yassmine Akarri

1:30–2:20 pm                     17 Harold Klinger Memorial Lecture The Evolutionary History of Mammalian Genome Organization Invited Speaker: Johannes Wienberg, Ph.D., introduced by Peter Jacky – Sponsored by Karger Publishers

2:20–2:30 pm                     18 Classification of Multiple Myeloma into Prognostic Groups Based on Karyotype and FISH. H.A. Aviv, I. Maxwell, J. Wang, K. Vassallo, A. Ninan, C. Creese and D. Ang

2:30–2:40 pm                     19 Improved Detection of Chromosome Abnormalities in Patients with MDS Utilizing Interphase FISH. M.S. Matthews

2:40–2:50 pm                     20 Deletions on Derivative Chromosome 9 in CML with t(9;22) Arise Not Only when the Translocation Initially Occurs, but also as Part of the Clonal Evolution –Evidence from More Than 50 Cases. N.S. Mitter

2:50–3:00 pm                     21 Unexpected Complexity of Supernumerary Marker Chromosomes Revealed by Microarray Comparative Genomic Hybridization. K.D. Tsuchiya, K. Opheim, M. Hannibal, A. Hing, I.A. Glass, M. Raff, C. Beattie, T. Norwood and B. Torchia

3:00–3:10 pm                     22 The Application of Interphase FISH Technique for Detecting Prenatally Common Chromosome Aneuploidies in Viet Nam. H.M.V. Bui, H.V. Bui, T.N. Phung, L.T. Mai, T.D. Nguyen and T.C. Phan

3:10–3:30 pm                     Coffee Break – Bonsai Ballroom – Sponsored by SciGene Corporation


Scientific Session 4:         FISH Validation and Discussion

Moderators: Robert Best and Sarah South

3:30–3:40pm                      23 Validation of Fluorescence in situ Hybridization Assays: BETAINV versus Mean plus 3 Standard Deviations for Calculation of Normal Cut-Off Values. L.R. Rowe, L.S. Rector, A.N. Lamb, A.R. Brothman and S.T. South

3:40–3:50 pm                     24 Assessment and Validation of the BioView Duet System for Automated Scoring of UroVysion. D.J. Wolff, R. Rogers and D.I. Quigley

3:50–4:00 pm                     25 A Statistical Method for Calculating FISH Reference Ranges over a Large Number of Values. A.L. Ciolino, M.E. Tang and R.J. Bryant

4:00–5:00 pm                     Discussion of FISH Validations

5:00–7:00 pm                     Free Time – Yeah!

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

Award Recipients: Dr. Orlando J. Miller and Dr. Dorothy Anne Miller

8:30–8:45 pm                     Introduction: Arthur Brothman

8:45–9:15 pm                     Discussion of Career and Accomplishments

9:15–10:00 pm                   Award Presentation and Remarks

10:00 pm                              Session Closing


Saturday, April 12

7:00–8:30 am                     Continental Breakfast – Bonsai Ballroom – Sponsored by Baylor College of Medicine Medical Genetics Laboratories

7:00–12:30 pm                   Conference Registration

7:30–8:00 am                     ACC Business Meeting With Student Award Presentations


Scientific Session 5:         Constitutional Cytogenetics

Moderators: Peter Jacky and Anne Higgins

8:00–8:10 am                     26 Prenatal Diagnosis of a de novo Unbalanced X-Autosome Translocation by Array-CGH in a Female Fetus withan Increased Nuchal Translucency. E. Kolomietz, J. Mazurkiewicz and D. Chitayat

8:10–8:20 am                     27 Evaluation of Anencephaly, Rachischisis, and Omphalocele in a Stillborn Cynomolgus Monkey ( Macaca fascicularis). S.M. Gardner, C.M. Moore, E.J. Dick, G.B. Hubbard, B.G. Dunn, V. Williams, C.Keller and M.D. Davis

8:20–8:30 am                     28 Update on Placental Mesenchymal Dysplasia, Chimeras, Mosaics and P57 KIP2. U. Surti and L. Hoffner

8:30–8:40 am                     29 No Association of Skewed X Inactivation with Recurrent Abortion or Trisomy. D. Warburton, J. Kline, S. Brown, A. Morin, C.-Y. Yu and B. Levin

8:40–8:50 am                     30 Sex Chromosome Loss in Lymphocyte Culture: Incidental or Clinically Relevant Finding; When Do You Report It? S. Shetty and J.E.Chernos

8:50–9:00 am                     31 Cytogenetic Study of 245 Infertile Men in Taiwan: Secret Behind the Number? M.H. Cheng, P.H. Wang, M.J. Yang, H.T. Chao, S.P. Chang, K.C. Chao and J.S. Huang

9:00–9:10 am                     Q & A


Scientific Session 6:         Array CGH

Moderators: Hutton Kearney and Lauren Jenkins

9:15–9:45 am                     32 Moving Cytogenetics from Bands into Bioinformatics. C. Lese Martin

9:45–10:00 am                   33 Utilization and Initial Implementation of a Whole Genome SNP Array for Clinical Analysis: Advantages, Problems and Unexpected Findings. S. Schwartz, C. Tan, L. Henderson, R. Nicolae, C. Ober, D. Waggoner and A. Murmann

10:00–10:15 am 34 The Fine-Scale and Complex Architecture of 1086 Human Copy Number Variant (CNV) Regions as Defined by Custom High-Density Oligonucleotide Microarrays. C. Lee, G.H. Perry, A. Ben-Dor, A. Tsalenko, N. Sampas, L. Rodriguez-Revenga, C.W. Tran, A. Scheffer, I. Steinfeld, P. Tsang, N.A. Yamada, H.S. Park, J.-I. Kim, J.-S. Seo, Z. Yakhini,  S. Laderman and L. Bruhn

10:15–10:30 am Coffee Break – Sponsored by Affymetrix

10:30–10:45 am 35 Utility of a BAC Emulated Oligonucleotide Array CGH in a Clinical Setting. A. Patel, S.H.L. Kang, C.A. Shaw, T. Sahoo, S. Lalani, C.A. Bacino, P. Stankiewicz, C.A. Shaw, A.C. Chinault, A.L. Beaudet, J.R. Lupski, S. Neill, A.N. Pursley, P.A. Ward and S.W. Cheung

10:45–11:00 am 36 Genome-wide and Targeted Analysis of Chromosomal Abnormalities using High Density Oligonucleotide Microarrays. V.L. Ott, R.R. Selzer, J. Geoghegan, P.S. Eis, T.A. Richmond, J. Kitzman, J. Norton and R.D. Green

11:00–11:15 am 37 Validation of Whole Genome Microarray SNP Testing. J.H. Tepperberg, B. Williford and P.R. Papenhausen

11:15–11:30 am 38 Concept Design for a Uniform, Evidence-based Molecular Karyotype and Shared Database. D.H. Ledbetter, A.R. Brothman and C.L. Martin

11:30–11:45                        39 Integrating Genome-Wide Segmental Aneuploidy Profiling and Karyotyping in Cytogenetic Diagnosis of Patients with Idiopathic Mental Retardation and Congenital Abnormalities. M. Poot and R. Hochstenbach

11:45–12:00 pm                40 Discovery of New Syndromes by Array CGH and Understanding the Clinical Implications. L.G. Shaffer

12:00–1:00 pm   CGH Discussion – Where Is It Going?

1:00 pm                                Afternoon on Your Own

1:30 pm                                Departure for Optional Activities

6:30–10:00 pm                   Dinner and Entertainment – Sponsored by Agilent Technologies


Sunday, April 13

7:00–9:00 am                     Continental Breakfast – Sponsored by LabCorp


Scientific Session 7:         Cytogenetics

Moderators: Athena Cherry and Jennifer Winters

8:00–8:10 am                     41 Laboratory Quality Improvement and Financial Success through Six Sigma Methodology. S.M. Zneimer

8:10–8:20 am                     42 Is Unreported Chromosomal Variation in Hyraxes Indicative of Cryptic Speciation?. M.L. Houck, S.J. Charter, L.G. Chemnick, H.A. Davis, J.A. Fronczek, A. Johnson and O.A. Ryder

8:20–8:30 am                     43 Chromosomal Aberrations Associated with Congenital Abnormalities, Infertility, and Repeated Early Embryonic Loss in the Domestic Horse (Equus caballus). T.L. Lear and J. Lundquist

8:30–8:40 am                     44 Experience with a Microarray Designed Specifically to Characterize Marker Chromosomes. C.D. Kashork, B.C. Ballif and L.G. Shaffer

8:40–8:50 am                     45 Novel Genomic Syndromes Defined by Array CGH Are Focused in Regions of High Complexity. S. Aradhya, A.G. Mitchell, S. Warren, J. Dorson and G. Richard

8:50–9:00 am                     46 Expansion in Size of a Terminal Deletion: A Paradigm Shift for Parental Follow-up Studies. S.T. South, A.F. Rope, A.N. Lamb, E. Aston, N. Glaus, H. Whitby, T. Maxwell, X.L. Zhu and A.R. Brothman

9:00–9:10 am                     Q & A

9:10–10:00 am                   47 Dissecting Microdeletions to Find the Haploinsufficient Genes. Invited Speaker: Uta Francke, M.D, introduced by Xu Li

10:00–10:10 am 48 From Genome to Gene: Integration of High Resolution Whole Genome SNP Oligonucleotide Microarray Analysis (SOMA) into the Clinical Cytogenetics Laboratory. B. Levy, V. Jobanputra, O. Nahum, D. De Vivo and D. Warburton

10:10–10:20 am 49 Deletion, Duplication and Copy Number Neutral Loss of Heterozygosity of Chromosome 22 Revealed by High Density SNP Array Analysis of Pediatric Rhabdoid Tumors. J. Biegel, A. Sievert, X. Gai, H. Hakonarson, T. Shaikh and E. Jackson

10:20–10:30 am 50 Identification of Commonly Aberrant Genomic Regions Using High Resolution Oligo Array CGH of FFPE Breast Cancer Samples. C.E. Carmack, R. Davis, A. De Witte, B. Poirier, E. Lin, A. Borowski, J. Ghosh, J. Gao, S. Giles, E. LeProust, D. Amorese, D. Roberts, S. Shams and J. Gregg

10:30–10:40 am 51 Homozygous Deletion of Copy Number Variants Detected by CGH Microarray as a Potential Mechanism for Mental Retardation. A.R. Brothman, E. Aston, H. Whitby, R. Mao, S.T. South and C. Curry

10:40–10:50 am 52 SNP Arrays Open a Window on Complex Mosaicism. L.K. Conlin, B.D. Thiel, L. Medne, L. Campbell, J.T. Glessner, C. Bonnemann, I.D. Krantz, H. Hakonarson and N.B. Spinner

10:50–11:00 am Q & A

11:00–11:30 pm                Brunch Break


Scientific Session 8:         Cytogenetics

Moderators: Frank Grass and Denise Quigley

11:30–11:40 am 53 Fetus in Fetu: An Unusual Case. A.M. Cherry, I. Schrijver, J. Kaplan, A. Kwan, D. Perry and J.T.C. Shieh

11:40–11:50 am 54 Cytogenetic Variation in Populations of Cope’s Gray Tree Frog Hyla chrysoscelis. J.E. Wiley and D.S. Bonner

11:50–12:00 pm                55 The Influence of Genetics, Epigenetics, and Environment on Acquired Chromosomal Abnormalities: A Twin Study. K.S. Haydu * , P. Vitazka, J.-U. Kang, A. Ferreira-Gonzalez and C.K. Jackson-Cook  * Student Award Recipient

12:00–12:10 pm                56 Concurrent Homozygous alpha-Thalassemia and Trisomy 7 Mosaicism: Case Report of a Liveborn Male Infant. F. Quintero-Rivera, P. Abreu-e-Lima, I.H. Zhang, F. Bieber and M.M. Parast

12:10–12:20 pm                57 Segregation of a Cryptic Familial Balanced Translocation (1p;22q) Resulting in Detection of Both Adjacent-1 Segregants. D.O. Saul, S.N. Dowey, E.D. Wood, D.A. Batista, K.J. Blakemore and G. Stetten

12:20–12:30 pm                58 Short Stature and Minor Anomalies in a Girl Having a Maternal Inherited Derivative Chromosome 20 with an Interchromosomal Insertion of the 9p13.2-9p21.3 Segment Resulting in 16.6-Mb Interstitial 9p Duplication: Further Delineation of the Critical Region for the 9p-Duplication Syndrome. Y.S. Zou, X. Huang, M. Ito, S. Newton and J. Milunsky

12:30–12:40 pm                59 Familial Translocation (10;12) with Deletion of 12q21.32. P. Jacky, X. Li, J. Sherman, M. DeWitt, O. Lamb, C. Osborn, V. Payne, J. Trinklein, D. Rappaport, L. Linck and D. Kostiner

12:40–12:50 pm                60 Quality Watch: Detection and Reporting Program to Assist Quality Genetic Testing. D.F. Saxe, J. Benkendorf, T.M. Cowan, T.W. Prior, C.S. Richards, K.W. Rao,  M.S. Watson and the ACMG Laboratory Quality Assurance Committee

12:50–1:00 pm                   Q & A

1:00–1:15 pm                     ACC 2010 and Adjournment