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Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report

BACKGROUND: Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p is a rare chromosomal abnormality described as the presence of a supernumerary...

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Autores principales: Pinto, Irene Plaza, Minasi, Lysa Bernardes, Steckelberg, Raphael, da Silva, Claudio Carlos, da Cruz, Aparecido Divino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128999/
https://www.ncbi.nlm.nih.gov/pubmed/30193577
http://dx.doi.org/10.1186/s12887-018-1275-8
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author Pinto, Irene Plaza
Minasi, Lysa Bernardes
Steckelberg, Raphael
da Silva, Claudio Carlos
da Cruz, Aparecido Divino
author_facet Pinto, Irene Plaza
Minasi, Lysa Bernardes
Steckelberg, Raphael
da Silva, Claudio Carlos
da Cruz, Aparecido Divino
author_sort Pinto, Irene Plaza
collection PubMed
description BACKGROUND: Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p is a rare chromosomal abnormality described as the presence of a supernumerary isochromosome 9p. Clinical features of tetrasomy 9p include a variety of physical and developmental abnormalities. CASE PRESENTATION: Herein, we reported a postnatal case of a newborn who died in early infancy with multiple congenital malformations due to a mosaic de novo tetrasomy 9p detected by Chromosomal Microarray Analysis. Conventional cytogenetics analysis of the proband was 47,XY,+mar[45]/46,XY[5]. The parental karyotypes presented no visible numerical or structural alterations. Microarray Analysis of the proband revealed that the marker chromosome corresponded to a mosaic de novo gain at 9p24.3q21.11. CONCLUSIONS: Chromosomal Microarray Analysis was helpful to identify the origin of the supernumerary marker chromosome and it was a powerful tool to carry out genetic diagnostic, guiding the medical diagnosis. Furthermore, the CMA allowed observing at the first time in Central Brazil the tetrasomy 9p and partial tetrasomy 9q in mosaic, encompassing a large duplicated region with several morbid genes, in an infant with multiple congenital malformations.
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spelling pubmed-61289992018-09-10 Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report Pinto, Irene Plaza Minasi, Lysa Bernardes Steckelberg, Raphael da Silva, Claudio Carlos da Cruz, Aparecido Divino BMC Pediatr Case Report BACKGROUND: Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p is a rare chromosomal abnormality described as the presence of a supernumerary isochromosome 9p. Clinical features of tetrasomy 9p include a variety of physical and developmental abnormalities. CASE PRESENTATION: Herein, we reported a postnatal case of a newborn who died in early infancy with multiple congenital malformations due to a mosaic de novo tetrasomy 9p detected by Chromosomal Microarray Analysis. Conventional cytogenetics analysis of the proband was 47,XY,+mar[45]/46,XY[5]. The parental karyotypes presented no visible numerical or structural alterations. Microarray Analysis of the proband revealed that the marker chromosome corresponded to a mosaic de novo gain at 9p24.3q21.11. CONCLUSIONS: Chromosomal Microarray Analysis was helpful to identify the origin of the supernumerary marker chromosome and it was a powerful tool to carry out genetic diagnostic, guiding the medical diagnosis. Furthermore, the CMA allowed observing at the first time in Central Brazil the tetrasomy 9p and partial tetrasomy 9q in mosaic, encompassing a large duplicated region with several morbid genes, in an infant with multiple congenital malformations. BioMed Central 2018-09-07 /pmc/articles/PMC6128999/ /pubmed/30193577 http://dx.doi.org/10.1186/s12887-018-1275-8 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Pinto, Irene Plaza
Minasi, Lysa Bernardes
Steckelberg, Raphael
da Silva, Claudio Carlos
da Cruz, Aparecido Divino
Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
title Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
title_full Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
title_fullStr Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
title_full_unstemmed Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
title_short Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
title_sort mosaic tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128999/
https://www.ncbi.nlm.nih.gov/pubmed/30193577
http://dx.doi.org/10.1186/s12887-018-1275-8
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