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[Triploidy in newborn infants].

W Küster1, H Beckmann, H J Gebauer

  • 1Universitäts-Hautklinik Düsseldorf.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|April 1, 1988
PubMed
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Human triploidy is common in pregnancy but rare in live births. This study details two rare cases of live-born infants with complete triploidy, offering insights into this condition.

Area of Science:

  • Genetics
  • Reproductive Biology
  • Pediatrics

Background:

  • Human triploidy, characterized by three sets of chromosomes, affects 1-2% of pregnancies.
  • It is exceptionally rare in live-born infants, with fewer than 44 cases documented.
  • Long-term survival in triploid infants often suggests mosaicism, typically diploid-triploid mosaicism.

Observation:

  • Two live-born female infants with complete triploidy were observed.
  • Detailed clinical observations were made on these rare cases.
  • The infants presented a characteristic clinical picture associated with complete triploidy.

Findings:

  • The observed infants had complete triploidy, a condition with three complete sets of chromosomes.
  • Their clinical presentation aligns with the known, albeit rare, phenotype of live-born triploidy.

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  • The cases contribute to the limited data on live-born infants with this chromosomal abnormality.

    • Implications:

    • These findings enhance understanding of the clinical spectrum of complete triploidy in live births.
    • The cases highlight the importance of accurate diagnosis and characterization of triploidy.
    • Further research into the genetics and clinical management of triploidy is warranted.