相关实验视频
Updated: May 2, 2026

07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
36.7K
案例报告:左心室外流通道阻塞与5p删除的关联
Kira Mascho1, Svetlana A Yatsenko2, Cecilia W Lo2
1Division of Pediatric Critical Care, Rainbow Babies and Children's Hospital, Cleveland, OH, United States.
Frontiers in genetics
|November 4, 2024
概括
克里杜查特综合征 (5p删除) 与左心室外流通道阻塞 (LVOTO) 有关. 这种罕见的组合,特别是与其他遗传变异相结合,表明受影响患者的死亡风险很高.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 发展生物学 发展生物学
背景情况:
- 5p删除综合征或Cri-du-chat综合征是一种罕见的遗传疾病.
- 在患有5p删除综合征的患者中,有高达36%的人报告了先天性心脏缺陷.
- 左心室外流通道阻塞 (LVOTO) 是儿科心脏病学的一个重大问题.
相关概念视频
Cardiac Catheterization II: Right Heart Catheterization
2.2K
Right Heart Catheterization: An OverviewRight heart catheterization is an invasive diagnostic procedure that measures right-sided cardiac and pulmonary artery pressures, calculates cardiac output, and identifies intracardiac shunts. It provides detailed hemodynamic data essential for diagnosing and managing various cardiovascular conditions, such as pulmonary hypertension.Access SitesCommon access sites for right heart catheterization include the internal jugular vein in the neck region, the...
2.2K
Mitral Stenosis I: Introduction
1.8K
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
1.8K

