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Long-term survival of an infant with complete tetraploidy: A case report

Tomoka Okamura1, Junko Yoshimoto1, Daisaku Morimoto1

  • 1Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama, Japan.

American Journal of Medical Genetics. Part A
|June 26, 2024
PubMed

Insights

This case study details a 4-year-old girl with complete tetraploidy, a rare condition typically associated with a limited lifespan. Her survival and development offer unique insights into managing this complex genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Complete tetraploidy is a rare chromosomal abnormality.
  • Infants with complete tetraploidy usually have a limited lifespan due to severe complications.

Keywords:
abnormalitieshumanshydrocephalusmeningomyelocelepolyploidytetralogy of Fallot

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