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. 2024 Sep;42(7):e4121.
doi: 10.1002/cbf.4121.

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

Rafaella Mergener  1 , Lívia Polisseni Cotta Nascimento  1 , Ana Kalise Böttcher  2 , Marcela Rodrigues Nunes  1   3 , Paulo Ricardo Gazzola Zen  4
Affiliations

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

Rafaella Mergener et al. Cell Biochem Funct. 2024 Sep.

Abstract

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.

Keywords: aCGH; dup16p11.2; reverse dysmorphology; spectrum; syndrome.

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References

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