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Secondary trisomy or mosaic "tetrasomy" 8p
1Department of Pediatrics, Wright State University School of Medicine, Dayton, Ohio.
American Journal of Medical Genetics
|March 1, 1989
Summary
This study describes mosaic tetrasomy of 8p, a rare genetic condition. The severity of congenital anomalies and clinical course varied with the percentage of tetrasomic cells.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Genetics
Background:
- Mosaic tetrasomy of 8p, a rare cytogenetic anomaly, involves having an extra copy of the short arm of chromosome 8 in some cells.
- This condition, denoted as 46,XY/47,XY,+i(8p), is previously unreported.
Observation:
- Two male patients with mosaic tetrasomy of 8p were analyzed.
- The first patient exhibited a low percentage of tetrasomic cells, mild phenotype, and a benign clinical course.
- The second patient presented with a higher percentage of tetrasomic cells, severe congenital anomalies, and mortality at 8 months.
Findings:
- A potential characteristic phenotype for +i(8p) is suggested but requires further establishment.
- Observed manifestations in both patients included rib and vertebral abnormalities, absent corpus callosum, and enlarged cerebral ventricles.
- These findings resemble features seen in mosaic trisomy 8 and mosaic trisomy 8p.
Implications:
- This report expands the understanding of chromosomal abnormalities and their phenotypic variability.
- Further research is needed to fully characterize the spectrum and long-term outcomes of mosaic tetrasomy of 8p.
- The study highlights the importance of cytogenetic analysis in diagnosing complex congenital anomalies.