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光 in situ 杂交 (FISH) 作为发展中国家威廉姆斯-比伦综合征不可替代的诊断工具:文献综述

Bianca Soares Carlotto¹, Desirée Deconte¹, Bruna Lixinski Diniz¹

¹Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

|July 12, 2023

概括

本综述强调了心脏特征作为早期威廉姆斯-比伦综合征诊断的关键. 光 in situ 杂交 (FISH) 是发展中国家的一种经济有效的诊断工具.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
医学诊断医学诊断医学诊断

背景情况:

威廉姆斯-比伦综合征是一种具有复杂表型的遗传性疾病.
早期诊断对于及时干预和管理至关重要.
光在位杂交 (FISH) 是一种遗传分析技术.

研究的目的:

审查和描述使用FISH诊断的威廉姆斯-伯伦综合征病例.
评估FISH作为发展中国家的成本有效的诊断方法.

主要方法:

在PubMed和SciELO数据库的系统文献搜索 (1986-2022年).
包括通过FISH诊断威廉姆斯 - 伯伦综合征的研究与分层患者表型.
排除与重叠综合征或遗传疾病相关的研究.

主要成果:

分析了64篇文章和205名由FISH诊断的威廉姆斯-比伦综合征患者.
心血管形存在于85.4%的病例中.
超膜大动脉狭窄 (62.4%) 和肺狭窄 (30.7%) 是最常见的心脏发现.

结论:

心脏特征对于早期诊断威廉姆斯-比伦综合征至关重要.
对于资源有限的环境,FISH是一个有价值和可访问的诊断工具.

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相关概念视频

FISH - Fluorescent In-situ Hybridization

FISH - Fluorescent In-situ Hybridization

Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...