Session # B-50

Double take! Mosaic Li Fraumeni syndrome in Monozygotic Twins

  • In this case report we describe we report on monozygotic (MZ) twins found to have the same mosaic TP53 mutation. To our knowledge, this is the first report of classic mosaicism associated with LFS in a MZ twin pair.
  • Despite the somatic origin for the majority of TP53 alterations with abnormal NGS metrics, this case highlights the importance of follow-up germline testing in MZ twins when mosaicism is found in a sibling.

  • Authors: Victoria Costello; Stephany Connor; Carla Mason; Melissa Pronold
  • Conference: National Society of Genetic Counselors (NSGC) 2018
  • Date: Thursday, Nov 15, 2018 6:00pm - 7:15pm

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