Alyazidi Anas S, Alsubaie Mohammed Abdullah, Alghamdi Maha K, Aggad Waheeb Sami
Department of Anatomy, Faculty of Medicine, King Abdulaziz University and University of Jeddah, Jeddah, Saudi Arabia.
J Microsc Ultrastruct. 2022 Dec 1;13(1):35-39. doi: 10.4103/jmau.jmau_54_22. eCollection 2025 Jan-Mar.
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.
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。