39th Biennial American Cytogenetics Conference

Emerald Point Resort Lake Lanier, Georgia  April 27th-30th, 2006


Organizing Committee

Co-Hosts:     Debra Saxe, PhD, Emory University School of Medicine, Decatur, GA

Daynna J Wolff, PhD, Medical University of South Carolina, Charleston, SC


Sue Ann Berend, PhD, Genzyme Genetics, Inc, Tampa, FL

Robert Best, PhD, University of South Carolina School of Medicine, Columbia, SC

Eileen Bryant, PhD, Fred Hutchison Cancer Research Center, Seattle, WA

Susanne Gollin, PhD, University of Pittsburgh, Pittsburgh, PA

Frank Grass, PhD, Parke Cytogenetics Laboratory, Charlotte, NC

Peter Jacky, PhD, Northwest Permanente, PC, Portland, OR

Charleen Moore, PhD, University of Texas Health Science Center, San Antonio, TX

Susan Olson, PhD, Oregon Health and Science University, Portland, OR

Denise Quigley, PhD, Medical University of South Carolina, Charleston, SC


Recipient of Student Travel Award Sponsored by Chroma Technologies

Sarah South, University of Utah, Salt Lake City, UT


American Cytogenetics Conference Distinguished Cytogeneticist Award

Jean H. Priest, MD, Professor Emeritus, Emory University School of Medicine, Atlanta, GA


The 2006 American Cytogenetics Conference gratefully acknowledges the generous support of the following companies:

Agilent Technologies


Applied Imaging

Applied Spectral Imaging, Inc.

Genzyme Genetics

Baylor College of Medicine Medical Genetics Labs


Carl Zeiss Microimaging, Inc.


Cytocell/Rainbow Scientific, Inc.

Nikon Instruments, Inc.


Genetic Solutions/Rainbow Scientific, Inc.

  1. Karger


Chroma Technologies


Abbott Molecular

Spectral Genomics

Emory Genetics Laboratory




Thursday, April 27

2:30 – 5:30 pm                   ACC Board Meeting

2:30 – 7:00 pm                   Conference Registration

5:30 – 7:00 pm                   Opening Reception – Sponsored by Abbott Molecular


Friday, April 28

7:00am – 7:30 pm             Conference Registration

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

7:55 – 8:00 am                   Welcome Address: Debra Saxe


Scientific Session 1:         Cancer Cytogenetics A

Moderators: Arthur Brothman and Joey Kelly

8:00 – 8:15 am                   1  Risk Stratification in Children’s Oncology Group (COG) B-Cell Precursor Acute Lymphoblastic Leukemia (B-ALL): Interactions of Cytogenetic and Molecular Approaches. NA Heerema, J Gastier-Foster, I-M Chen, RC Harvey, EA Raetz, ML Loh, SP Hunger, NJ Winick, WL Carroll, AJ Carroll

8:15 – 8:30 am                   2  A Case of Concurrent Relapsed ALL and Secondary AML. AM Cherry, CD Bangs, I Galperin, SK Atwater, O Kuch, MP Link

8:30 – 8:45 am                   3 The Effect of IL-2 on Increasing the Detection Rate of Abnormal Clones in Cancer Cytogenetics Studies: A Simple Strategy. JR Batanian, B Gadre, E Ma

8:45 – 9:00 am                   4 ABL1 Amplification in T-PLL. RR Schreck, K Baden, L Zhang, R Alsabeh

9:00 – 10:00 am                 5 Direct-to-Consumer Genetic Laboratory Testing – Invited Speaker: Bradley Popovich, Ph.D. Chief Executive Officer, Sirius Genomics, Inc. Vancouver, BC, introduced by Denise I. Quigley

10:00-10:30 am                  Coffee Break – Sponsored by Applied Imaging


Scientific Session 2:         Constitutional Cytogenetics A

Moderators: Christa Lese Martin and Hutton Kearney

10:30-10:45 am                  6  Identification of a Telomere-Like Sequence at 22q11.2 Using Double-Strand PRINS. J Yan, EF Bouchard, B-Z Chen, G Bujold-Michaud

10:45-11:00 am                  7  Molecular Cytogenetics Characterization of a Unique and Complex de novo 8p Rearrangement. GVN Velagaleti, SL Cooke, JK Northup, W Zinser, PAW Edwards, LH Lockhart

11:00-11:15 am                  8  Significance of a High Frequency of Chromosome Polymorphic Variations in

Infertility. PF Madon, FR Parikh, AS Athalye, V Bandkar, SB Dhumal, MT Kawle, M Sanap, AA Sopariwala, S Minocher, SA Uttamchandani

11:15-11:30 am                  9  Frequency of Telomere Rearrangements in Individuals Who Are Phenotypically Normal and Those With Developmental Delay/Mental Retardation. JL Wise, RJ Crout, DW McNeil, RJ Wyant, ML Marazita, SL Wenger

11:30-11:45 am                  10  Prenatal Diagnosis of 10 Cases with Smith-Magenis Syndrome. N Qin, B Huang

11:45-12:00 am                  11  When Interphase FISH and Cytogenetic Studies Show (Apparently) Discordant Results. M Leve, T Morris, JB Ravnan, SA Berend

12:00-1:30 pm                    Luncheon sponsored by Agilent Technologies or lunch on your own


Scientific Session 3:         Genomic Studies

Moderators: James Tepperberg and Bob Best

1:30 – 2:30 pm                   12  Structural Variations in the Human Genome. Invited Speaker: Charles Lee, Ph.D. Brigham and Women’s Hospital, Harvard Medical School, introduced by Daynna J. Wolff

2:30 – 2:45 pm                   13  Low Level Somatic Mosaicism Detected by CGH With A Targeted Chromosomal Microarray. SW Cheung, C Shaw, A Patel, S Trilochan, A Pursley, VR Sutton, DA Scott, P Stankiewicz, AC Chinault, A Beaudet

2:45 – 3:00 pm                   14  High Resolution Oligo Array Comparative Genomic Hybridization (aCGH) in the Investigation of Autism and Neurodevelopmental Disorders. CE Carmack, CA Baron, RR Davis, RA 3:00 – 3:15 pm                                15  Novel Cytogenetic Alterations Detected by Array CGH in Patients with Developmental Delay, Dysmorphology, and Mental Retardation. S Aradhya, J Shieh, E Hoyme, MA Manning, HE Hoyme, AM Cherry

3:15 – 3:30 pm                   16  Loci of Shared Segmental Aneuploidy in the Genomes of Healthy and Mentally Retarded Subjects Detected by Array-CGH. M Poot, MJ Eleveld, R Hochstenbach, JK Ploos Van Amstel

3:30 – 3:45 pm                   17 Applications of Array CGH Testing to Clinical Cytogenetics – What Should We Be Doing? AR Brothman, E Aston, H Whitby, S South, B Issa, J Xu, Z Chen, DL Pickering, W Sanger, M Williams

3:45 – 4:00 pm                   18  Comparison of a Targeted BAC Microarray Analysis and Routine Chromosome and FISH Analyses in Chronic Lymphocytic Leukemia (CLL). AS Patel, S-H Kangl, A Lennon, N Rao, L Abruzzo, Y Li, C Shaw, CA Chinault, SW Cheung

4:00– 4:30pm                     Coffee Break – Sponsored by Applied Spectral Imaging, Inc.


Scientific Session 4:         Cytogenetics Potpourri

Moderator: Charleen Moore

4:30 – 4:45 pm                   19  Quality Watch: A New Program of the American College of Medical Genetics Laboratory Quality Assurance Committee to Enhance Quality Genetic Testing. DF Saxe, J Benkendorf, TM Cowan, TW Prior, CS Richards, MS Watson

4:45 – 5:00 pm                   20  Case Load Survey, Workload Equation and How To Address Staffing Shortages in Cytogenetics. DI Quigley, GB Cote, DJ Wolff

5:00 – 5:15 pm                   21 Analysis of a Repetitive DNA Sequence that Hybridizes by FISH to the Pericentromeric Regions of Bufo Chromosomes. JE Wiley, BT Stone, NE Pederson

5:30 – 6:30 pm                   Business Meeting –  Refreshments sponsored by Spectral Genomics

7:00 – 10:00 pm ACC 2006 Distinguished Cytogeneticist Award Dinner

Award Recipient: Jean H. Priest, MD

8:30 – 8:45 pm Introduction: Kristin May

8:45 – 9:15 pm Discussion of Dr. Priest’s Career and Accomplishments

9:15 – 10:00 pm Award Presentation and Remarks from Dr. Priest

10:00 pm Session Closing: Debra Saxe


Saturday, April 29

7:00 – 9:00 am                   Continental Breakfast – Sponsored by Rainbow Scientific, Inc.

7:00 – 12:30 am                 Conference Registration


Scientific Session 5:        Constitutional Cytogenetics

Moderators: Colleen Jackson-Cook and Susan Olson

8:00 – 8:15 am                   22  Paracentric Inversion Found in the Mother of a Child with Cri-du-Chat Syndrome: Evidence of Dicentric Chromosome Formation with Pre-zygotic Breakage Leading to a Viable Terminal Deletion. ST South, JJ Swensen, T Maxwell, A Rope, Z Chen, AR Brothman

8:15 – 8:30 am                   23  Genotype-Phenotype Correlation for Down Syndrome: A Study of Mosaicism for Trisomy 21. P Papavassiliou, N Gursoy, G Hill, A Pandya, L Vanner-Nicely, A Ferreira-Gonzalez, CI Dumur, C Jackson-Cook

8:30 – 8:45 am                   24  Determination of the Origin of Female Cells in a Peripheral Blood Sample from an Unambiguously Male Newborn. CW Rehder, PC Goldenberg, HM Kearney, BK Goodman

8:45 – 9:00 am                   25 Inherited Derivative X;Y Translocation. SL Wenger, M Jaynes, M Hummel, MK Llaudes

9:00 -10:00 am                   26  Animal Cytogenetics: Thriving in an Era of Genome Sequencing Invited Speaker: Bhanu Chowdhary, Ph.D. College of Veterinary Medicine, Texas A&M University, introduced by Sue Ann Berend

10:00-10:30 am                  Coffee Break – Sponsored by Baylor College of Medicine Medical Genetics Labs


Scientific Session 6:         Cancer Genetics B

Moderators: Kathleen Rao and Denise I. Quigley

10:30-10:45 am                  27  Impact of Cytogenetic Evaluation on Prognosis of Patients with AML. S Vidito, AL Zaslav, T Mercado, D Gladstone, K Zamkoff

10:45-11:00 am                  28  A Novel t(4;17)(q12;q21) with Rearrangement of the 17q21 RARA Locus in a Case with Juvenile Myelomonocytic Leukemia. A Buijs, MCA Bruin

11:00-11:15 am                  29  Recent Advances in Diagnosis and Management of Cancers – A Genetic Approach. RT Sethi, K Kucheria

11:15-11:30 am                  30  Yin and Yang of False Positive and False Negative Results: Interpretation Complexities for MLL Fluorescence in situ Hybridization (FISH) Studies. JL Murata-Collins, PA Rushton, KE Richkind, JT Mascarello

11:30-11:45 am                  31  Correlations of Cytogenetic and Histological Studies in  Renal Cell Carcinomas. RP Kannan, I Maxwell, A Gonzalez, DS Bonner, A Ninan, M Purardare, HA Aviv

11:45-12:00 pm                 32  Potential for False Positive Results using Fluorescence In  Situ Hybridization Studies for Bladder Cancer. DJ Wolff, B Hooper, M. Reeves, TE Keane, DI Quigley

12:00 pm                              Afternoon on your own

12:30 pm                              Departure for optional activities

7:00 – 10:00 pm BBQ Dinner and Entertainment – Sponsored by Agilent Technologies


Sunday, April 30

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

7:00 – 12:30 pm Conference Registration


Scientific Session 7:         Constitutional Cytogenetics

Moderators: John Wiley and Lauren Jenkins

8:00 – 8:15 am                   33 Phelan-McDermid Syndrome in Several Family Members due to Malsegregation of a t(19;22). MC Phelan, AR Mitz

8:15 – 8:30 am                   34 Chromosome-Specific Differences in the Frequency of Age-Related Genomic Changes: A Study of Micronuclei (using SKY), Telomeres, and Uncultured Nuclei. KS Haydu, CW Rehder, NT Leach, CK Jackson-Cook

8:30 – 8:45 am                   35  Chromosome 15q Telomere Deletions: Association of  IGF1R with Pre- and Postnatal Growth Retardation. Z Nawaz, DH Ledbetter, CL Martin

8:45 – 9:00 am                   36 Cryptic Duplication of 12q24.33->qter in a Child With Angelman Syndrome – Simultaneous Occurrence of Two Chromosomal Events. M Sathanoori, J Hul, V Murthy, A Byrnes, J Vockeley, R Safier, J Bedoyan, U Surti

9:00-10:00 am                    S. Karger Harold Klinger Memorial Lecture: An introspective on Harold Klinger presented by Peter Jacky, Re-examination of Carriers of Balanced Reciprocal Translocations: A Strategy to Detect Candidate Loci for Common and Complex Disease. Invited speaker: Neils Tommerup, Ph.D., Director, Wilhelm Johannsen Centre of Functional Genomic Research, The Panum Institute, University of Copenhagen

10:00-10:30 am                  Coffee Break – Sponsored by Nikon Instruments, Inc.


Scientific Session 8:         Constitutional Cytogenetics D

Moderators: Frank Grass and Peter Jacky

10:30-10:45 am                  38 Beckwith-Wiedemann Syndrome in a Female with a de novo der(21)t(11;21)(p15.1;p11.2) Detected by Conventional Cytogenetic Analysis and FISH. NC Christacos, RG Best

10:45-11:00 am                  39 Centric Fission as a Common Mechanism of Marker Chromosome Formation. EL Baldwin, CL Martin, DH Ledbetter

11:00 – 11:15 am               40  A Familial Duplication of 22q11.2 Including the TUPLE1 Locus. CA Curtis, C Ward

11:15 – 11:45 am               ISCN 2005

11:45 – 12:00 pm              ACC 2008 and Adjournment Lauren Jenkins and Debra Saxe