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Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8)
Annales De Genetique
|January 1, 1980
Summary
This study details a girl with partial trisomy 8 mosaicism, presenting symptoms consistent with trisomy 8 syndrome. A unique dicentric chromosome 8 was identified, functioning as a single chromosome due to an inactive centromere.
Area of Science:
- Genetics
- Human genetics
- Cytogenetics
Background:
- Trisomy 8 syndrome, also known as Warkany syndrome, is a rare chromosomal disorder.
- Mosaicism involves having cell lines with different chromosomal compositions.
- Partial trisomy indicates an extra copy of only a segment of a chromosome.
Observation:
- A pediatric case presenting with clinical features characteristic of trisomy 8 syndrome.
- Analysis revealed partial trisomy 8 mosaicism in the affected individual.
- The specific chromosomal abnormality involved a dicentric autosome, dic(8) (qter-p21::p21-qter).
Findings:
- The dicentric chromosome 8 was present in all abnormal cells.
- Evidence suggests one centromere was inactive, enabling the dicentric chromosome to function monocentrically.
- Karyotyping of the parents confirmed normal chromosomal complements, indicating a de novo event.
Implications:
- This case expands the understanding of chromosomal aberrations leading to trisomy 8 syndrome.
- The behavior of the dicentric chromosome highlights mechanisms of centromere inactivation.
- Further research into mosaic trisomy 8 and dicentric chromosome formation is warranted.