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Trisomy 8 mosaicism syndrome. Two cases demonstrating variability in phenotype
Z E Kurtyka1, B Krzykwa, E Piatkowska
1First Department of Pediatrics, N. Copernicus Medical School, Kraków, Poland.
Clinical Pediatrics
|November 1, 1988
Summary
This study highlights the wide range of symptoms in trisomy 8 mosaicism syndrome, affecting individuals with intellectual disability and those with normal IQ. Osteoarticular anomalies were observed in both cases, emphasizing phenotype variability.
Area of Science:
- Genetics
- Clinical Medicine
- Developmental Biology
Background:
- Trisomy 8 mosaicism syndrome is a rare chromosomal disorder.
- Characterized by a variable phenotype, making diagnosis challenging.
- Understanding its clinical spectrum is crucial for patient management.
Observation:
- Two patients with trisomy 8 mosaicism syndrome were studied.
- Patient 1: child with intellectual disability and dysmorphic features.
- Patient 2: adult with normal IQ and hypogammaglobulinemia.
Findings:
- Both patients exhibited osteoarticular anomalies.
- Dermatoglyphic analysis confirmed trisomy 8, showing deep skin furrows.
- Cytogenetic analysis revealed a lower percentage of trisomic cells in 3-day lymphocyte cultures versus 2-day cultures.
- This suggests potential in vitro elimination of trisomic cells, possibly influenced by environmental factors.
Implications:
- The findings underscore the extreme variability in clinical presentation of trisomy 8 mosaicism.
- Highlights the importance of comprehensive cytogenetic and clinical evaluation.
- Suggests further research into factors affecting trisomic cell survival in vitro.