A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker Chromosome

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dc.contributor.author Pacanaro, Ade Nubia Xavier [UNIFESP]
dc.contributor.author Christofolini, Denise Maria
dc.contributor.author Kulikowski, Leslie Domenici
dc.contributor.author Nogueira Belangero, Sintia Iole
dc.contributor.author Silva Bellucco, Fernanda Teixeira da
dc.contributor.author Varela, Monica C.
dc.contributor.author Koiffmann, Celia P.
dc.contributor.author Yoshimoto, Maisa
dc.contributor.author Squire, Jeremy A.
dc.contributor.author Schiavon, Adriana V.
dc.contributor.author Heck, Benjamin
dc.contributor.author Melaragno, Maria Isabel [UNIFESP]
dc.date.accessioned 2016-01-24T13:59:22Z
dc.date.available 2016-01-24T13:59:22Z
dc.date.issued 2010-03-01
dc.identifier http://dx.doi.org/10.1002/ajmg.a.33308
dc.identifier.citation American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 152A, n. 3, p. 753-758, 2010.
dc.identifier.issn 1552-4825
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/32310
dc.description.abstract Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are derived from acrocentric chromosomes and half of them include the short arm of chromosome 15. Generally, they appear as bisatellited isodicentric marker chromosomes, most of them are symmetric. These chromosomes are normally originated de novo and are associated with mild to severe intellectual disability but not with physical abnormalities. We report on a patient with an SMC studied using classical and molecular cytogenetic procedures (G and C banding, NOR staining, painting and centromeric fluorescent in situ hybridization (FISH), BAC-FISH, and SKY). the MLPA technique and DNA polymorphic markers were used in order to identify its parental origin. the marker chromosome, monosatellited and monocentric, was found to be derived from a maternal chromosome 15 and was defined as 15pter-q21.2. This is the report of the largest de novo monosatellited 15q marker chromosome ever published presenting detailed cytogenetic and clinical data. It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum. (C) 2010 Wiley-Liss, Inc. en
dc.description.sponsorship Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorship Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorship Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.format.extent 753-758
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.relation.ispartof American Journal of Medical Genetics Part A
dc.rights Acesso restrito
dc.subject chromosome 15 en
dc.subject duplication 15pter-q21.2 en
dc.subject marker chromosome en
dc.subject partial trisomy en
dc.subject trisomy 15q en
dc.title A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker Chromosome en
dc.type Artigo
dc.rights.license http://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Univ Toronto
dc.contributor.institution Hosp Sao Camilo Pompeia
dc.description.affiliation Universidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Human Genome Study Ctr, Dept Genet & Evolutionary Biol, Inst Biosci, São Paulo, Brazil
dc.description.affiliation Univ Toronto, Ontario Canc Inst, Princess Margaret Hosp, Univ Hlth Network, Toronto, ON, Canada
dc.description.affiliation Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada
dc.description.affiliation Hosp Sao Camilo Pompeia, Neonatal Intens Care Unit, Dept Pediat, São Paulo, Brazil
dc.description.affiliation Hosp Sao Camilo Pompeia, Clin Genet & Genet Counseling Unit, São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Dept Pathol, Sch Med, BR-05508 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04023900 São Paulo, Brazil
dc.identifier.doi 10.1002/ajmg.a.33308
dc.description.source Web of Science
dc.identifier.wos WOS:000276155200031



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