Related Experiment Videos
Duplication 11 (q22----qter) in an infant. A case report with review
Insights
This study details a male infant with chromosome 11 partial duplication (11q22----qter) and a novel translocation to chromosome 9. This case helps define features of 11q duplication, distinct from common 11q/22q translocations.
Area of Science:
- Genetics
- Human Chromosome Abnormalities
- Medical Genetics
Background:
- Partial trisomy of chromosome 11, specifically 11q duplication, is a rare chromosomal abnormality.
- Most cases of 11q trisomy involve 11q/22q translocation and result in 47 chromosomes due to 3:1 meiotic disjunction.
- Some cases present with partial deletion of other autosomes, maintaining a total of 46 chromosomes.
Observation:
- A male infant presented with partial duplication of the long arm of chromosome 11 (11q22----qter).
- This infant exhibited a previously unreported translocation involving chromosome 9p.
- No apparent deletion of the 9p region was observed in this case.
Findings:
- The novel translocation to 9p provides a unique opportunity to study the phenotypic manifestations solely due to 11q duplication.
- Phenotypic features associated with this specific 11q duplication were delineated.
- A comparative analysis was performed between the observed features of partial 11q trisomy and those typically seen in 11q/22q translocations.
Implications:
- This case expands the understanding of chromosomal translocation mechanisms and their impact on genetic disorders.
- It aids in distinguishing the specific clinical features resulting from 11q duplication versus other 11q abnormalities.
- Further research into such unique translocations can refine genotype-phenotype correlations in chromosomal duplication syndromes.
Abstract:
A male infant with partial duplication of the long arm of chromosome 11 (11q22----qter) is described with a hitherto unreported translocation. In most cases 11q trisomy is associated with 11q/22q translocation and a 3:1 meiotic disjunction with 47 chromosomes. In a few cases the 11q translocation is associated with a partial deletion of other autosomes and a total of 46 chromosomes. In the present case, translocation to 9p is involved and no apparent deletion of 9p was noted, providing an opportunity to delineate the phenotypic features due to duplication of 11q. A comparison is made between the findings of partial 11q trisomy and 11q/22q translocation.