We present the case of a girl with complete tetraploidy who has survived to her present age of 4 years and 1 month. Infants with complete tetraploidy have been described to have a limited lifespan owing to complications. We report her characteristics, medical history, and development.
Keywords: abnormalities; humans; hydrocephalus; meningomyelocele; polyploidy; tetralogy of Fallot.
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.