Case Studies in Genetics

Co-Moderator(s)

• 

  Jianling Ji, MD, MS, FACMG

  Assistant professor, assistant director
  Children's Hospital Los Angeles, University of Southern California
  Los Angeles, California, United States

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

• EW

  Eli Williams

Presentations:

• 7:00 AM - 7:15 AM MST

  Male or Female? Integrated Molecular and Cytogenetic Testing Resolves Discordant Prenatal Results
  

  Case Presenter: Ting Wen, MD PHD – University of Utah/ARUP laboratories
• 7:15 AM - 7:30 AM MST

  Siblings With Familial Hemophagocytic Lymphohistiocytosis and Compound Heterozygous PRF1 Variants.
  

  Case Presenter: Chinwe C. Madubata, MD, MSCI (she/her/hers) – Columbia University
• 7:30 AM - 7:45 AM MST

  Rare Patient With an Interstitial 13q Deletion Derived From a Paternal Chromosome 13 Paracentric Inversion
  

  Case Presenter: Divya S. Vinjamur, MSc, PhD – Virginia Commonwealth University Health System
• 7:45 AM - 8:00 AM MST

  Rapid Whole Exome Sequencing Detects Novel Homozygous Deletion in a Newborn With Refractory Seizures
  

  Case Presenter: Lauren Wainman, MS, PhD (she/her/hers) – Dartmouth-Hitchcock Medical Center