Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay

Detalhes bibliográficos
Autor(a) principal: Oliveira, Jakeline Santos [UNESP]
Data de Publicação: 2020
Outros Autores: Joaquim, Tatiana Mozer, da Silva, Rosana Aparecida Bicudo [UNESP], de Souza, Deise Helena [UNESP], Martelli, Lúcia Regina, Moretti-Ferreira, Danilo [UNESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1590/1678-4685-GMB-2018-0285
http://hdl.handle.net/11449/198667
Resumo: Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The pa-tient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32
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spelling Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delayArray-CGHDuplication 12pFacial dysmorphismDuplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The pa-tient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32Universidade Estadual PaulistaCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Universidade Estadual Paulista “Júlio de Mesquita Filho” (UNESP) Instituto de Biociências Departamento de Ciências Químicas e BiológicasUniversidade de São Paulo Faculdade de Medicina de Ribeirão Preto Departamento de GenéticaUniversidade Estadual Paulista “Júlio de Mesquita Filho” (UNESP) Instituto de Biociências Departamento de Ciências Químicas e BiológicasCAPES: 001Universidade Estadual Paulista (Unesp)Universidade de São Paulo (USP)Oliveira, Jakeline Santos [UNESP]Joaquim, Tatiana Mozerda Silva, Rosana Aparecida Bicudo [UNESP]de Souza, Deise Helena [UNESP]Martelli, Lúcia ReginaMoretti-Ferreira, Danilo [UNESP]2020-12-12T01:18:56Z2020-12-12T01:18:56Z2020-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://dx.doi.org/10.1590/1678-4685-GMB-2018-0285Genetics and Molecular Biology, v. 43, n. 1, 2020.1678-46851415-4757http://hdl.handle.net/11449/19866710.1590/1678-4685-GMB-2018-0285S1415-475720200001001032-s2.0-85082331071S1415-47572020000100103.pdfScopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics and Molecular Biologyinfo:eu-repo/semantics/openAccess2024-01-11T06:28:26Zoai:repositorio.unesp.br:11449/198667Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T22:41:37.827820Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
title Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
spellingShingle Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
Oliveira, Jakeline Santos [UNESP]
Array-CGH
Duplication 12p
Facial dysmorphism
title_short Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
title_full Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
title_fullStr Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
title_full_unstemmed Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
title_sort Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
author Oliveira, Jakeline Santos [UNESP]
author_facet Oliveira, Jakeline Santos [UNESP]
Joaquim, Tatiana Mozer
da Silva, Rosana Aparecida Bicudo [UNESP]
de Souza, Deise Helena [UNESP]
Martelli, Lúcia Regina
Moretti-Ferreira, Danilo [UNESP]
author_role author
author2 Joaquim, Tatiana Mozer
da Silva, Rosana Aparecida Bicudo [UNESP]
de Souza, Deise Helena [UNESP]
Martelli, Lúcia Regina
Moretti-Ferreira, Danilo [UNESP]
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
Universidade de São Paulo (USP)
dc.contributor.author.fl_str_mv Oliveira, Jakeline Santos [UNESP]
Joaquim, Tatiana Mozer
da Silva, Rosana Aparecida Bicudo [UNESP]
de Souza, Deise Helena [UNESP]
Martelli, Lúcia Regina
Moretti-Ferreira, Danilo [UNESP]
dc.subject.por.fl_str_mv Array-CGH
Duplication 12p
Facial dysmorphism
topic Array-CGH
Duplication 12p
Facial dysmorphism
description Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The pa-tient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32
publishDate 2020
dc.date.none.fl_str_mv 2020-12-12T01:18:56Z
2020-12-12T01:18:56Z
2020-01-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1590/1678-4685-GMB-2018-0285
Genetics and Molecular Biology, v. 43, n. 1, 2020.
1678-4685
1415-4757
http://hdl.handle.net/11449/198667
10.1590/1678-4685-GMB-2018-0285
S1415-47572020000100103
2-s2.0-85082331071
S1415-47572020000100103.pdf
url http://dx.doi.org/10.1590/1678-4685-GMB-2018-0285
http://hdl.handle.net/11449/198667
identifier_str_mv Genetics and Molecular Biology, v. 43, n. 1, 2020.
1678-4685
1415-4757
10.1590/1678-4685-GMB-2018-0285
S1415-47572020000100103
2-s2.0-85082331071
S1415-47572020000100103.pdf
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Genetics and Molecular Biology
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
_version_ 1808129451585699840

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