Related Experiment Videos
[Partial trisomy 21]
Archives Francaises De Pediatrie
|April 1, 1979
Insights
Children with partial Down syndrome (trisomy 21) showed increased superoxide dismutase A activity. This highlights the 21q22 gene band's role in the condition's development.
Area of Science:
- Genetics
- Biochemistry
- Developmental Biology
Background:
- Down syndrome (trisomy 21) is a genetic disorder typically caused by an extra copy of chromosome 21.
- Partial trisomy 21 involves an extra segment of chromosome 21, leading to varied clinical presentations.
- Superoxide dismutase A (SOD1) is an enzyme encoded by a gene on chromosome 21.
Observation:
- Three children with partial trisomy 21 presented with phenotypic features resembling complete trisomy 21.
- These children exhibited elevated levels of superoxide dismutase A activity in their cells.
Findings:
- Increased superoxide dismutase A activity was observed in children with specific partial trisomy 21.
- The findings suggest a correlation between SOD1 activity and the clinical phenotype in partial trisomy 21.
Implications:
- The 21q22 chromosomal band, which contains the SOD1 gene, is implicated as a critical region for the development of Down syndrome features.
- This emphasizes the pathogenic role of the 21q22 band in Down syndrome.
- Understanding the role of specific chromosomal bands can aid in predicting clinical outcomes and developing targeted interventions.
Abstract:
Three mentally retarded children with partial trisomy 21 who looked like children with complete trisomy 21 had increased activity of superoxide dismutase A. This emphases the pathogenic role of the 21q22 band in this condition.