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

Detalhes bibliográficos
Autor(a) principal: Oliveira,Jakeline Santos
Data de Publicação: 2020
Outros Autores: Joaquim,Tatiana Mozer, Silva,Rosana Aparecida Bicudo da, Souza,Deise Helena de, Martelli,Lúcia Regina, Moretti-Ferreira,Danilo
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103
Resumo: Abstract 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 patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial duplication 12p. In most cases, duplication 12p phenotype is characterized by dysmorphic features, multiple congenital anomalies and intellectual disability. A small number of cases in literature have described genes associated with neurodevelopmental disease, such as ING4, CHD4, MFAP5, GRIN2B, SOX5, SCN8A and PIANP. In our patient the duplication 12p was de novo. This study should contribute to the genotype-phenotype correlation in partial duplication 12p cases.
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spelling Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delayDuplication 12parray-CGHfacial dysmorphismAbstract 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 patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial duplication 12p. In most cases, duplication 12p phenotype is characterized by dysmorphic features, multiple congenital anomalies and intellectual disability. A small number of cases in literature have described genes associated with neurodevelopmental disease, such as ING4, CHD4, MFAP5, GRIN2B, SOX5, SCN8A and PIANP. In our patient the duplication 12p was de novo. This study should contribute to the genotype-phenotype correlation in partial duplication 12p cases.Sociedade Brasileira de Genética2020-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103Genetics and Molecular Biology v.43 n.1 2020reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2018-0285info:eu-repo/semantics/openAccessOliveira,Jakeline SantosJoaquim,Tatiana MozerSilva,Rosana Aparecida Bicudo daSouza,Deise Helena deMartelli,Lúcia ReginaMoretti-Ferreira,Daniloeng2020-02-07T00:00:00Zoai:scielo:S1415-47572020000100103Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2020-02-07T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)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
Duplication 12p
array-CGH
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
author_facet Oliveira,Jakeline Santos
Joaquim,Tatiana Mozer
Silva,Rosana Aparecida Bicudo da
Souza,Deise Helena de
Martelli,Lúcia Regina
Moretti-Ferreira,Danilo
author_role author
author2 Joaquim,Tatiana Mozer
Silva,Rosana Aparecida Bicudo da
Souza,Deise Helena de
Martelli,Lúcia Regina
Moretti-Ferreira,Danilo
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Oliveira,Jakeline Santos
Joaquim,Tatiana Mozer
Silva,Rosana Aparecida Bicudo da
Souza,Deise Helena de
Martelli,Lúcia Regina
Moretti-Ferreira,Danilo
dc.subject.por.fl_str_mv Duplication 12p
array-CGH
facial dysmorphism
topic Duplication 12p
array-CGH
facial dysmorphism
description Abstract 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 patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial duplication 12p. In most cases, duplication 12p phenotype is characterized by dysmorphic features, multiple congenital anomalies and intellectual disability. A small number of cases in literature have described genes associated with neurodevelopmental disease, such as ING4, CHD4, MFAP5, GRIN2B, SOX5, SCN8A and PIANP. In our patient the duplication 12p was de novo. This study should contribute to the genotype-phenotype correlation in partial duplication 12p cases.
publishDate 2020
dc.date.none.fl_str_mv 2020-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1678-4685-gmb-2018-0285
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.43 n.1 2020
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
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instname_str Sociedade Brasileira de Genética (SBG)
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repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
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