Case Studies in Genetics

Co-Moderator (T & E Cmte)(s)

• 

  Sara Akhavanfard, MD, PhD, FACMG

  Assistant Professor of Pathology / Lab Director
  Case Western Reserve University / University Hospitals
  Cleveland, Ohio, United States
• 

  Madina Sukhanova, PhD (she/her/hers)

  Associate Professor of Pathology
  Feinberg School of Medicine, Northwestern Memorial Hospital
  Illinois, Illinois, United States

Session

Description: Challenging Case Studies are presented by trainees or technologists. They will discuss the case's clinical history, molecular analysis, interesting features, and the proposed diagnosis. Other molecular testing methods, if applicable, will be included in the presentation, including biopsies, gross/microscopic pathology, immunohistochemistry/flow cytometry, and cytogenetic findings.

Session

Objectives:
- Describe the context of a challenging clinical case.
- Discuss the molecular pathology techniques used in the diagnosis of the case.
- Propose a final diagnosis based upon findings and diagnostic evidence.

Presentations:

• 7:00 AM - 7:15 AM EST

  SORD Mystery Solved with Long Read Sequencing
  

  Case Presenter: Irfan Yasin – University of Minnesota
• 7:15 AM - 7:30 AM EST

  Dual Balanced Insertions on Chromosome 2 Identified in a Carrier Mother: Implications for Recurrent Copy Number Variants in Offspring
  

  Case Presenter: Parisa Kargaran, PhD (she/her/hers) – Mayo Clinic
• 7:30 AM - 7:45 AM EST

  Paired Tumor-Normal Sequencing Identifies a Homozygous Pathogenic BRCA2 Germline Variant Leading to a Diagnosis of an Atypical Presentation of Fanconi Anemia
  

  Case Presenter: Andrew Lingard, MD, MSc, FRCPC (he/him/his) – The Ottawa Hospital / Eastern Ontario Regional Laboratory Association
• 7:45 AM - 8:00 AM EST

  Homozygosity for the SMN2 c.859G>C Allele Accounts for the Phenotypic and Genotypic Discordances Seen in an Uncommon Case of Spinal Muscular Atrophy Revealed by Newborn Screening
  

  Case Presenter: Adriel Y. Kim, PhD (she/her/hers) – Nationwide Children's Hospital