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帕陶综合征患者的多学科干预与长期生存:基于单机构的详细临床管理病例报告

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

作者信息

Alyazidi Anas S, Alsubaie Mohammed Abdullah, Alghamdi Maha K, Aggad Waheeb Sami

机构信息

Department of Anatomy, Faculty of Medicine, King Abdulaziz University and University of Jeddah, Jeddah, Saudi Arabia.

出版信息

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 1 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.

摘要

13三体综合征是一种临床症状严重的疾病,其平均预期寿命为7至10天,约90%的患者在1岁内死亡。在存活出生的病例中,它是第三常见的三体综合征。它很重要,因为它与多种中枢神经、心脏和循环系统、泌尿生殖系统畸形以及低存活率有关。导致较长存活率的因素尚未完全了解。然而,多项研究发现,一些因素如基因易位或嵌合体、种族和女性性别可提高生存能力。我们描述了一名患有嵌合型帕陶综合征(47, XX + 13)的14岁女性,其存活时间比通常情况更长。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d203/12063923/6f7719746238/JMAU-13-35-g001.jpg

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