A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker Chromosome
dc.contributor.author | Pacanaro, Ade Nubia Xavier [UNIFESP] | |
dc.contributor.author | Christofolini, Denise Maria [UNIFESP] | |
dc.contributor.author | Kulikowski, Leslie Domenici [UNIFESP] | |
dc.contributor.author | Belangero, Sintia Iole [UNIFESP] | |
dc.contributor.author | Bellucco, Fernanda Teixeira da Silva [UNIFESP] | |
dc.contributor.author | Varela, Monica Castro | |
dc.contributor.author | Koiffmann, Celia Priszkulnik | |
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.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.date.accessioned | 2016-01-24T13:59:22Z | |
dc.date.available | 2016-01-24T13:59:22Z | |
dc.date.issued | 2010-03-01 | |
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.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.description.provenance | Made available in DSpace on 2016-01-24T13:59:22Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-03-01 | en |
dc.description.source | Web of Science | |
dc.description.sponsorship | Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) | pt |
dc.description.sponsorship | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) | pt |
dc.description.sponsorship | Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) | pt |
dc.format.extent | 753-758 | |
dc.identifier | https://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.doi | 10.1002/ajmg.a.33308 | |
dc.identifier.issn | 1552-4825 | |
dc.identifier.uri | https://repositorio.unifesp.br/handle/11600/32310 | |
dc.identifier.wos | WOS:000276155200031 | |
dc.language.iso | eng | |
dc.publisher | Wiley-Blackwell | |
dc.relation.ispartof | American Journal of Medical Genetics Part A | |
dc.rights | Acesso restrito | |
dc.rights.license | http://olabout.wiley.com/WileyCDA/Section/id-406071.html | |
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 |