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Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single
Anas S Alyazidi1, Mohammed Abdullah Alsubaie1, Maha K Alghamdi1
1Department of Anatomy, Faculty of Medicine, King Abdulaziz University and University of Jeddah, Jeddah, Saudi Arabia.
Insights
Trisomy 13, or Patau syndrome, is a severe genetic disorder. This case study highlights a 14-year-old female with mosaic Patau syndrome, demonstrating extended survival beyond typical outcomes.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Trisomy 13 (Patau syndrome) is a severe chromosomal abnormality with a very low survival rate.
- It is associated with significant congenital malformations affecting multiple organ systems.
- Factors influencing longer survival in Trisomy 13 are not fully elucidated.
Abstract:
Trisomy 13 is a clinically severe condition wherein has a median life expectancy of 7 to 10 days, approximately 90% of patients end up dying during the 1st year of life. Among surviving births, it is the third most prevalent trisomy. It is significant as it is tied to a variety of central nervous, cardiac, and circulatory systems, urogenital system malformations, as well as a low survival rate. The factors that contribute to a longer survival rate are not fully understood. However, several studies have found that some factors such as genetic translocations or mosaicism, race, and female gender improve survivability. We describe a 14-year-old female with mosaic Patau syndrome (47, XX + 13) who experienced life longer than usual.
