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

• Published in: Cell biochemistry and function 2024-09, Vol.42 (7), p.e4121-n/a
• Main Authors: Mergener, Rafaella, Nascimento, Lívia Polisseni Cotta, Böttcher, Ana Kalise, Nunes, Marcela Rodrigues, Zen, Paulo Ricardo Gazzola
• Format: Article
• Language: English
• Subjects: aCGH; Chromosome Disorders - diagnosis; Chromosome Disorders - genetics; Chromosome Duplication; Chromosomes, Human, Pair 16 - genetics; dup16p11.2; Humans; reverse dysmorphology; spectrum; Syndrome
• ISSN: 0263-6484; 1099-0844; 1099-0844
• DOI: 10.1002/cbf.4121

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. Significance Statement In the genomic era, where genetic tests and diagnostic technologies are advancing rapidly, the correct classification of certain pathologies is essential. For this, revisiting and readjustment of terms becomes imminent. Here, we analyze 16p11.2 microduplication cases and use the data to support a discussion about the use of some classic clinical terms, proposing a new point of view in descriptive care, related to both technological interpretation and expression.