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

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dc.contributor.authorOliveira, Jakeline Santos [UNESP]
dc.contributor.authorJoaquim, Tatiana Mozer
dc.contributor.authorda Silva, Rosana Aparecida Bicudo [UNESP]
dc.contributor.authorde Souza, Deise Helena [UNESP]
dc.contributor.authorMartelli, Lúcia Regina
dc.contributor.authorMoretti-Ferreira, Danilo [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.date.accessioned2020-12-12T01:18:56Z
dc.date.available2020-12-12T01:18:56Z
dc.date.issued2020-01-01
dc.description.abstractDuplication 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 → p13.32en
dc.description.affiliationUniversidade Estadual Paulista “Júlio de Mesquita Filho” (UNESP) Instituto de Biociências Departamento de Ciências Químicas e Biológicas
dc.description.affiliationUniversidade de São Paulo Faculdade de Medicina de Ribeirão Preto Departamento de Genética
dc.description.affiliationUnespUniversidade Estadual Paulista “Júlio de Mesquita Filho” (UNESP) Instituto de Biociências Departamento de Ciências Químicas e Biológicas
dc.description.sponsorshipUniversidade Estadual Paulista
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.description.sponsorshipIdCAPES: 001
dc.identifierhttp://dx.doi.org/10.1590/1678-4685-GMB-2018-0285
dc.identifier.citationGenetics and Molecular Biology, v. 43, n. 1, 2020.
dc.identifier.doi10.1590/1678-4685-GMB-2018-0285
dc.identifier.fileS1415-47572020000100103.pdf
dc.identifier.issn1678-4685
dc.identifier.issn1415-4757
dc.identifier.scieloS1415-47572020000100103
dc.identifier.scopus2-s2.0-85082331071
dc.identifier.urihttp://hdl.handle.net/11449/198667
dc.language.isoeng
dc.relation.ispartofGenetics and Molecular Biology
dc.rights.accessRightsAcesso aberto
dc.sourceScopus
dc.subjectArray-CGH
dc.subjectDuplication 12p
dc.subjectFacial dysmorphism
dc.titleNon-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delayen
dc.typeArtigo

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