Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single Institution-Based Detailed Clinical Management
Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single Institution-Based Detailed Clinical Management

Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single Institution-Based Detailed Clinical Management

J Microsc Ultrastruct. 2022 Dec 1;13(1):35-39. doi: 10.4103/jmau.jmau_54_22. eCollection 2025 Jan-Mar.

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.

PMID:40351747 | PMC:PMC12063923 | DOI:10.4103/jmau.jmau_54_22