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[69, XXY triploidy in a liveborn infant]
K Pasková1, T Braxatorisová, V Geislerová
1Ustav lekárskej biológie LF UK, Bratislava.
Ceskoslovenska Patologie
|August 1, 1992
Summary
Triploidy (69, XXY), a rare chromosomal abnormality, was identified in a liveborn fetus. Postmortem cytogenetical analysis confirmed the diagnosis of this severe condition.
Area of Science:
- Genetics
- Developmental Biology
- Perinatology
Background:
- Triploidy is a rare chromosomal abnormality where cells have three sets of chromosomes instead of the usual two.
- It is typically lethal, with most affected fetuses not surviving past the first trimester.
- The 69, XXY karyotype is one of the common forms of triploidy.
Observation:
- A liveborn fetus diagnosed with triploidy (69, XXY) was documented.
- The fetus weighed 760 g at the time of examination.
- The diagnosis was established through postmortem cytogenetical analysis.
Findings:
- Confirmation of triploidy with a 69, XXY karyotype in a liveborn infant.
- The case highlights the potential for survival to live birth despite this severe genetic condition.
- Cytogenetical analysis remains the gold standard for diagnosing chromosomal abnormalities.
Implications:
- This case contributes to the understanding of the phenotypic spectrum and survival potential in triploidy.
- It underscores the importance of cytogenetical analysis in diagnosing complex genetic disorders.
- Further research into the factors influencing survival in chromosomal abnormalities like triploidy is warranted.