ACC 2024 Abstract Submissions

Deadline for submission: January 9, 2024

Step 1: First (Presenting) Author’s Information

  • The first (presenting) author cannot be the first author of another abstract being submitted.
  • The following information is required: First and last name of author(s), institution, city, state and zip code/postal code, and e-mail address.

Step 2: Abstract Presentation Preference This meeting traditionally has had the majority of presentations as platform talks, and the aim is to maintain that tradition. Depending on the number of submissions, some poster presentations may be assigned. Select one of the following options in the Presenter Information box at the lower right of the submission page. However, final assignment to platform or poster presentation is determined by the Program Committee.

  • Platform
  • Poster
  • No Preference

Step 3: Abstract Author List, Title and Text (see example below) Include all author names and institutions in the Author Information box at the top right of the abstract submissions page. You are allotted 300 words for the body of your abstract. Title, author and institutional data are not included in the 300 words. Do not use photographs, tables or graphs in the abstract.  Please use the Abstract Submission page on this website.

Step 4: Publication Status By submitting, you are agreeing that the following two statements are true regarding the submitted abstract:

  • The work outlined in the abstract has not been published prior to January 9, 2024.
  • The work outlined was performed as research only and not for the promotion of any products or for financial profit.

Step 5: Disclosure Information We ask that participants be informed of a presenter’s (speaker, faculty, author, or contributor) academic and professional affiliation, and the existence of any relevant financial relationship a presenter has with any proprietary entity, with the exemption of non-profit or governmental organizations. Disclosure should include any relationship that may bias your presentation or could give the perception of bias.

Step 6: Application for Student Awards (Pre-doc/Post-doc) This is an opportunity for you to apply for a student award. Please inform the Program committee that you would like your abstract to be considered for a student award. Applicant must be the first (presenting) author. To be considered, please send your name, abstract title, the type of award (pre-doctoral, post-doctoral), and the name and e-mail of a nominator in an email to Student Award Committee Chair Makenzie Fulmer. The nominator will be sent an e-mail and asked to authenticate the work.

Step 7: Submitting the abstract Please use the Abstract Submission page on this website. Abstract deadline:  January 9, 2024. You will receive confirmation of the submission of your abstract by email.  If you do not receive confirmation within one week of submission, please contact the Program Chair. At a later date, you will receive notice if the abstract was accepted and whether it is for poster or platform presentation. For any questions on abstract submission, contact the Program Committee Chair Caroline Astbury.



Interpretation of Microarray Results: A Point System to Discriminate Benign, Unknown Significance and Pathogenic Copy Number Changes

Denise A.S. Batista1,2,3, Elizabeth Wohler1, Susan Morsey1, Janet Biscoe1, Linjie Wo1, Natini Jinawath3

1Cytogenetics Laboratory, Kennedy Krieger Institute, Baltimore, MD; 2Department of Pathology, Johns Hopkins University, Baltimore, MD; 3Institute of Genetic Medicine, Johns Hopkins Medical Institutions

Mental retardation occurs in 1-3% of individuals in the population and about 40% of patients remain without a causative diagnosis. The use of comparative genomic hybridization and single nucleotide polymorphism (SNP) arrays has provided an answer for many of these previously undiagnosed individuals. Alongside known causative microdeletions and microduplications, many other copy number changes (CNC) of unknown clinical significance are also found. Interpretation of these CNCs is not standardized amongst cytogenetics laboratories and discordance has been previously reported to the point that some CNCs might be classified as abnormal by one laboratory and normal by another. These discrepancies highlight the need for clear and specific guidelines.

We developed a scoring system for CNCs that included 12 categories, each assigned 2, 1 or 0 points depending on the inferred likelihood of causative effect. Categories were: size and number of markers, deletion versus duplication, probe content (SNP versus cnvi), presence/absence of RefSeq genes, involvement of exons, presence/absence of microRNA, entry on OMIM, entry on DECIPHER, known syndrome, entry on CHOP CNV database of healthy individuals, entry on our laboratory internal database of benign variants and entry on DGV. The system was applied to 17 patients previously analyzed in our laboratory utilizing the Illumina 610Quad SNP array and reported with a pathogenic abnormality.  In addition to the causative CNC, each patient had between 4 and 12 CNCs identified. All of the CNCs reported as abnormal had a score between 17 to 24 points, and 45 benign CNCs scored 11 or lower. We are expanding our analysis to additional patients which will also include CNCs reported as of unknown clinical significance.

The identification of a pathogenic or benign CNC without previously well defined clinical significance, poses a burden to clinicians, counselors and families. A clear and objective score system would not only facilitate interpretation but provide health professionals with tools for patient management. Our goal is to encourage discussion and standardization for the analysis of CNCs detected by microarray in the phenotypically abnormal patient. Any such system will have to be re-evaluated and changed accordingly once new discoveries on mechanistic disease pathways are described.