什么才能真正被视为综合征？基于 16p11.2 微重复的见解

IF 2.8 3区生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Cell Biochemistry and Function Pub Date : 2024-09-12 DOI:10.1002/cbf.4121

Rafaella Mergener, Lívia Polisseni Cotta Nascimento, Ana Kalise Böttcher, Marcela Rodrigues Nunes, Paulo Ricardo Gazzola Zen

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引用次数: 0

摘要

综合征的定义是什么？自遗传学研究开始以来，人们就创造并使用了一些术语来定义疾病群或变异群。随着知识的进步和新技术的出现，基本概念的使用出现了偏差，甚至经常造成混淆。因此，重新审视和调整旧术语迫在眉睫。在此，我们通过对已经明确定义的基因改变（16q11.2 微重复）进行文献汇编，来探讨这些概念及其使用。我们对基因改变本身的临床和分子范围及其诊断方法进行了比较，以改进病例报告，挽救术语及其在当今的适用性。

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What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication

What is the definition of Syndrome? Since the beginning of studies in genetics, certain terminologies have been created and used to define groups of diseases or alterations. With the advancement of knowledge and the emergence of new technologies, the use of basic concepts is being done in a mistaken or often confusing way. Because of this, revisiting and readjusting the old terms becomes imminent. Here, we explore these concepts and their use, through a literature compilation of an already well-defined genetic alteration (16q11.2 microduplication). We bring comparisons in clinical and molecular scope of the alteration itself and its diagnostic methods, to improve the report of cases, rescuing terminologies and their applicability nowadays.

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来源期刊

Cell Biochemistry and Function 生物-生化与分子生物学

CiteScore

6.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Cell Biochemistry and Function publishes original research articles and reviews on the mechanisms whereby molecular and biochemical processes control cellular activity with a particular emphasis on the integration of molecular and cell biology, biochemistry and physiology in the regulation of tissue function in health and disease. The primary remit of the journal is on mammalian biology both in vivo and in vitro but studies of cells in situ are especially encouraged. Observational and pathological studies will be considered providing they include a rational discussion of the possible molecular and biochemical mechanisms behind them and the immediate impact of these observations to our understanding of mammalian biology.