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Trisomy 18 in a 20-year-old woman
Michael Kelly1, Bradley W Robinson, John W Moore
1MCP Hahnemann School of Medicine, Philadelphia, Pennsylvania, USA.
American Journal of Medical Genetics
|October 12, 2002
Summary
This case study describes a 20-year-old female with trisomy 18, a condition rarely surviving infancy. It reviews management strategies for prolonged survival in individuals with this genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Internal Medicine
Background:
- Trisomy 18 (Edwards syndrome) is a severe genetic disorder.
- Infantile mortality is high, with few individuals surviving past the first year.
- Factors influencing long-term survival remain poorly understood.
Observation:
- A case of a 20-year-old female with trisomy 18 is presented.
- This individual achieved prolonged survival beyond typical expectations.
- The case highlights the potential for extended lifespan in trisomy 18.
Findings:
- Management strategies for older children and young adults with trisomy 18 are reviewed.
- The case offers insights into the care required for extended survival.
- Understanding contributing factors to longevity is crucial.
Implications:
- This case expands the understanding of trisomy 18 survival.
- It emphasizes the need for comprehensive, long-term care plans.
- Further research into factors promoting prolonged survival is warranted.