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dc.contributor.authorPacanaro, Ade Nubia Xavier [UNIFESP]
dc.contributor.authorChristofolini, Denise Maria
dc.contributor.authorKulikowski, Leslie Domenici
dc.contributor.authorNogueira Belangero, Sintia Iole
dc.contributor.authorSilva Bellucco, Fernanda Teixeira da
dc.contributor.authorVarela, Monica C.
dc.contributor.authorKoiffmann, Celia P.
dc.contributor.authorYoshimoto, Maisa
dc.contributor.authorSquire, Jeremy A.
dc.contributor.authorSchiavon, Adriana V.
dc.contributor.authorHeck, Benjamin
dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 152A, n. 3, p. 753-758, 2010.
dc.description.abstractSupernumerary 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.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsAcesso restrito
dc.subjectchromosome 15en
dc.subjectduplication 15pter-q21.2en
dc.subjectmarker chromosomeen
dc.subjectpartial trisomyen
dc.subjecttrisomy 15qen
dc.titleA Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker Chromosomeen
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniv Toronto
dc.contributor.institutionHosp Sao Camilo Pompeia
dc.description.affiliationUniversidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Human Genome Study Ctr, Dept Genet & Evolutionary Biol, Inst Biosci, São Paulo, Brazil
dc.description.affiliationUniv Toronto, Ontario Canc Inst, Princess Margaret Hosp, Univ Hlth Network, Toronto, ON, Canada
dc.description.affiliationUniv Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada
dc.description.affiliationHosp Sao Camilo Pompeia, Neonatal Intens Care Unit, Dept Pediat, São Paulo, Brazil
dc.description.affiliationHosp Sao Camilo Pompeia, Clin Genet & Genet Counseling Unit, São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Dept Pathol, Sch Med, BR-05508 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04023900 São Paulo, Brazil
dc.description.sourceWeb of Science

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