Unusual duplication in the pericentromeric region of chromosome 9 in a patient with phenotypic alterations

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dc.contributor.author Malinverni, Andréa Cristina de Moraes [UNIFESP]
dc.contributor.author Colovati, Mileny Esbravatti Stephano [UNIFESP]
dc.contributor.author Perez, Ana Beatriz Alvarez [UNIFESP]
dc.contributor.author Caneloi, Thamy P. [UNIFESP]
dc.contributor.author Oliveira, Helio R., Jr. [UNIFESP]
dc.contributor.author Kosyakova, Nadezda
dc.contributor.author Liehr, Thomas
dc.contributor.author Hamid, Ahmed B.
dc.contributor.author Melaragno, Maria Isabel [UNIFESP]
dc.date.accessioned 2019-01-21T10:29:32Z
dc.date.available 2019-01-21T10:29:32Z
dc.date.issued 2016
dc.identifier https://doi.org/10.1159/000453574
dc.identifier.citation Cytogenetic And Genome Research. Basel, v. 150, n. 2, p. 100-105, 2016.
dc.identifier.issn 1424-8581
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/49262
dc.description.abstract Several alterations involving the pericentromeric region of chromosome 9 are considered as normal population variants. These heterochromatic variants or heteromorphisms can include 9qh+, 9cen+, 9ph+, 9ph-, inv(9)(p11q13), and other patterns which can only be defined by FISH studies. However, some heteromorphisms have been found more frequently in patients with several clinical disorders. Here, we report on a patient with intellectual disability, language and neurodevelopmental delay, as well as facial dysmorphism and an unusual chromosome 9. While the banding karyotype was indicative of a simple pericentric inversion of one chromosome 9 [46, XX, inv(9)(p12q13)], array comparative genomic hybridization showed a 6-Mb duplication, including 22 genes: arr[hg19] 9p13.1p11.2(38,869,901-44,870,714) x3 dn. Molecular cytogenetics using a panel of probes specific for the pericentromeric region of chromosome 9 showed an unusual, rearranged chromosome 9, der(9)(pter -> p11.2 en
dc.description.sponsorship Sao Paulo Research Foundation (FAPESP), Brazil [2014/11572-8]
dc.format.extent 100-105
dc.language.iso eng
dc.publisher Wiley
dc.relation.ispartof Cytogenetic And Genome Research
dc.rights Acesso restrito
dc.subject Acgh en
dc.subject Chromosome 9 en
dc.subject Fish en
dc.subject Heterochromatic Variants en
dc.subject HeteromorphismsVariants en
dc.subject Inversion en
dc.subject Euchromatin en
dc.subject Sequences en
dc.subject Family en
dc.subject Bands en
dc.title Unusual duplication in the pericentromeric region of chromosome 9 in a patient with phenotypic alterations en
dc.type Artigo
dc.description.affiliation Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil
dc.description.affiliation Institut für Humangenetik, Universitätsklinikum Jena, Jena, Germany
dc.description.affiliationUnifesp Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, BR-04023900 Sao Paulo, SP, Brazil.
dc.description.sponsorshipID FAPESP: 2014/11572-8
dc.identifier.doi 10.1159/000453574
dc.description.source Web of Science
dc.identifier.wos WOS:000394972200004



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