What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication-Reference-Cited by-同舟云学术

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

Published:2024-09-12 Issue:7 Volume:42 Page:
ISSN:0263-6484
Container-title:Cell Biochemistry and Function
language:en
Short-container-title:Cell Biochemistry & Function

Author:

Mergener Rafaella¹^ORCID,Nascimento Lívia Polisseni Cotta¹^ORCID,Böttcher Ana Kalise²^ORCID,Nunes Marcela Rodrigues¹³^ORCID,Zen Paulo Ricardo Gazzola⁴^ORCID

Affiliation:

1. Graduate Program in Pathology Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) Porto Alegre Rio Grande do Sul Brazil

2. Undergraduate Program in Biomedical Science UFCSPA Porto Alegre Rio Grande do Sul Brazil

3. Medical Genetics Resident, UFCSPA/Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA) Porto Alegre Rio Grande do Sul Brazil

4. Department of Clinical Medicine Medical Genetics, UFCSPA/ISCMPA Porto Alegre Rio Grande do Sul Brazil

Abstract

ABSTRACTWhat 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.

Publisher

Wiley

Reference31 articles.

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2. 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

3. Online Mendelian Inheritance in Man OMIM® Chromosome 16p11.2 Duplication Syndrome(Baltimore MD: McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University 2024) https://www.omim.org/entry/614671?search=614671&highlight=614671.