Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , |
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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Genetics and Molecular Biology |
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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) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122389651521536 |