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Triploidy syndrome in a liveborn female
H Schwaibold1, I Dulisch, C Wittekind
1Pathologisches Institut Universität Freiburg, Federal Republic of Germany.
Teratology
|September 1, 1990
Summary
This case report details a liveborn female with triploidy (69xxx), exhibiting severe fetal and placental hypoplasia. Autopsy revealed multiple congenital anomalies and organ hypoplasia, suggesting a proliferative deficiency in triploid cells.
Area of Science:
- Genetics
- Developmental Biology
- Pathology
Background:
- Triploidy is a rare chromosomal abnormality characterized by the presence of three sets of chromosomes.
- It is typically associated with severe developmental abnormalities and is often lethal in utero or shortly after birth.
Observation:
- A liveborn female infant with triploidy (69xxx) presented with generalized fetal hypoplasia, distinctive facial features (hypertelorism, microstomia, micrognathia), and limb anomalies (syndactyly).
- Autopsy revealed severe hypoplasia of all internal organs, including atrial and ventricular septal defects, fused adrenals and kidneys, absent gallbladder, and hyperplastic ovarian hilum cells.
- The placenta was also hypoplastic, exhibiting a unique hydatidiform villous hypoplasia, a finding not previously reported.
Findings:
- Cytogenetic analysis confirmed triploidy (69xxx).
- Cytophotometric analysis of placental stromal cells confirmed a triploid DNA content, approximately 50% above the normal diploid value.
- The generalized fetal and placental hypoplasia, along with severe organ hypoplasia, are hypothesized to result from a proliferative deficiency inherent to the triploid cells.
Implications:
- This case highlights the spectrum of phenotypic manifestations in triploidy, emphasizing the potential for severe congenital anomalies and organ dysfunction.
- The novel finding of hydatidiform villous hypoplasia in the placenta may offer new insights into placental development in triploid pregnancies.
- Understanding the cellular mechanisms, such as proliferative deficiency, underlying triploidy is crucial for genetic counseling and future research into chromosomal disorders.