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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
Insights
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.
Abstract:
A 20-year-old female with trisomy 18 is described. Survival past infancy is rare in this disorder. Little is known concerning the factors that contribute to prolonged survival with this syndrome. This case provides an opportunity to review the management of older children and young adults with trisomy 18.