多学科干预对长期生存的帕陶综合征患者:单机构详细临床管理一例报告。

Q3 Medicine
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2025-01-01 DOI:10.4103/jmau.jmau_54_22
Anas S Alyazidi, Mohammed Abdullah Alsubaie, Maha K Alghamdi, Waheeb Sami Aggad
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引用次数: 0

摘要

13三体是一种临床上严重的疾病,其平均预期寿命为7至10天,大约90%的患者最终在生命的第一年死亡。在幸存的新生儿中,它是第三大最常见的三体。重要的是,它与各种中枢神经系统、心脏和循环系统、泌尿生殖系统畸形以及低存活率有关。提高生存率的因素还不完全清楚。然而,一些研究发现,一些因素,如基因易位或嵌合体、种族和女性性别,可以提高存活率。我们描述了一位14岁患有马赛克Patau综合征的女性(47,XX + 13),她的寿命比平时长。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single Institution-Based Detailed Clinical Management.

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.

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来源期刊
CiteScore
1.90
自引率
0.00%
发文量
46
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