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                 Alphelys                                              

Applied Imaging                        Applied Spectral Imaging, Inc.

Genzyme Genetics                     Baylor College of Medicine Medical Genetics Labs

Invitrogen                                 Carl Zeiss Microimaging, Inc.

Metasystems                             Cytocell/Rainbow Scientific, Inc.

Nikon Instruments, Inc.              Genial Genetic Solutions/Rainbow Scientific, Inc.            

S. Karger AG                           Chroma Technologies

LabCorp                                   Abbott Molecular

Spectral Genomics                     Emory Genetics Laboratory

Program

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

                                    Chief Executive Officer, Sirius Genomics, Inc. Vancouver, BC

Introduced by Denise I. Quigley

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

                                    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

                                    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 Walker, CF Nelson, JP Gregg

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

 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)

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

                                    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

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

                                    Scientific Session 5:  Constitutional Cytogenetics B

                                    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

                                    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

                                    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 C

                                    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

37  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