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Amniotic trisomy 11 mosaicism--is it a benign finding?
Lina Basel-Vanagaite1, Bella Davidov, Jane Friedman
1Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel. basel@post.tau.ac.il
Prenatal Diagnosis
|July 1, 2006
Summary
Prenatal diagnosis of trisomy 11 mosaicism in amniotic fluid, despite a high cell count, can have a normal outcome. Further cases are needed to understand the clinical significance of this rare finding.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Chromosomal Abnormalities
Background:
- Trisomy 11 mosaicism is a rare chromosomal abnormality.
- Prenatal diagnosis of mosaicism requires careful evaluation of cell lines.
- Previous reports of trisomy 11 mosaicism detected prenatally have shown normal outcomes.
Observation:
- A case of trisomy 11 mosaicism detected in amniotic fluid (26% of cells) is presented.
- Fetal blood analysis revealed a normal karyotype, and ultrasound showed no structural abnormalities.
- The infant was born with normal physical findings and developed normally at one year of age.
Findings:
- Postnatal evaluation did not detect trisomic cells, suggesting an extraembryonic origin.
- Molecular analysis ruled out uniparental disomy of chromosome 11.
- This case adds to the limited literature on trisomy 11 mosaicism with a favorable outcome.
Implications:
- The clinical significance of trisomy 11 mosaicism detected prenatally remains uncertain.
- Additional case reports are crucial for accurate risk assessment.
- This finding highlights the importance of correlating prenatal and postnatal genetic data.