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16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake’s Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image ex...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454344/ https://www.ncbi.nlm.nih.gov/pubmed/37628634 http://dx.doi.org/10.3390/genes14081583 |
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author | Nascimento, Lívia Polisseni Cotta Mergener, Rafaella Nunes, Marcela Rodrigues Muniz, Victória Feitosa Catao, Juliana Rossi da Silveira, Ana Kalise Böttcher Dorfman, Luiza Emy Graziadio, Carla Zen, Paulo Ricardo Gazzola |
author_facet | Nascimento, Lívia Polisseni Cotta Mergener, Rafaella Nunes, Marcela Rodrigues Muniz, Victória Feitosa Catao, Juliana Rossi da Silveira, Ana Kalise Böttcher Dorfman, Luiza Emy Graziadio, Carla Zen, Paulo Ricardo Gazzola |
author_sort | Nascimento, Lívia Polisseni Cotta |
collection | PubMed |
description | We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake’s Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations. |
format | Online Article Text |
id | pubmed-10454344 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-104543442023-08-26 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? Nascimento, Lívia Polisseni Cotta Mergener, Rafaella Nunes, Marcela Rodrigues Muniz, Victória Feitosa Catao, Juliana Rossi da Silveira, Ana Kalise Böttcher Dorfman, Luiza Emy Graziadio, Carla Zen, Paulo Ricardo Gazzola Genes (Basel) Article We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake’s Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations. MDPI 2023-08-03 /pmc/articles/PMC10454344/ /pubmed/37628634 http://dx.doi.org/10.3390/genes14081583 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Nascimento, Lívia Polisseni Cotta Mergener, Rafaella Nunes, Marcela Rodrigues Muniz, Victória Feitosa Catao, Juliana Rossi da Silveira, Ana Kalise Böttcher Dorfman, Luiza Emy Graziadio, Carla Zen, Paulo Ricardo Gazzola 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? |
title | 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? |
title_full | 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? |
title_fullStr | 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? |
title_full_unstemmed | 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? |
title_short | 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? |
title_sort | 16p11.2 microduplication syndrome with increased fluid in the cisterna: coincidence or phenotype extension? |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454344/ https://www.ncbi.nlm.nih.gov/pubmed/37628634 http://dx.doi.org/10.3390/genes14081583 |
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