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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleDe Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case.pt_BR
dc.contributor.authorSimioni, Milenapt_BR
dc.contributor.authorSteiner, Carlos Eduardopt_BR
dc.contributor.authorGil-da-Silva-Lopes, Vera Lúciapt_BR
unicamp.authorMilena Simioni, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, SP, Brazil.pt_BR
unicamp.authorCarlos Eduardo Steiner, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, SP, Brazil.pt_BR
unicamp.authorVera Lúcia Gil-da-Silva-Lopes, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, SP, Brazil. Electronic address: vlopes@fcm.unicamp.br.pt_BR
dc.subjectApparently Balanced Chromosome Rearrangementspt_BR
dc.subjectComplex Chromosome Rearrangementspt_BR
dc.subjectMicroarraypt_BR
dc.subjectReciprocal Translocationpt_BR
dc.description.abstractReciprocal translocations are one of themost common structural rearrangements with a frequency of 1:500 and occur when there is an exchange of distal segments to breakpoints between non-homologous chromosomes. Two or three independent, simple reciprocal or Robertsonian translocations co-exist in the same carrier were classified as complex chromosome rearrangements (CCRs). Structural chromosome rearrangements are considered balanced when there is no apparent gain or loss of chromosome material. In majority of cases, apparently balanced structural chromosome rearrangements (ABCR) are not associated with abnormal phenotypes, although these have been described in 6% of de novo ABCR and 23% of apparently balanced CCR. Here we report a patient with de novo two apparently balanced reciprocal translocations and two partial monosomies, one of these involving an independent chromosome characterized by microarray. Structural rearrangement investigations can improve the knowledge about human genome architecture and correlation of genomic imbalances to abnormal phenotype.en
dc.relation.ispartofGenept_BR
dc.relation.ispartofabbreviationGenept_BR
dc.date.issued2015-Novpt_BR
dc.identifier.citationGene. v. 573, n. 1, p. 166-170, 2015-Nov.pt_BR
dc.language.isoengpt_BR
dc.description.volume573pt_BR
dc.description.firstpage166-170pt_BR
dc.rightsfechadopt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn1879-0038pt_BR
dc.identifier.doi10.1016/j.gene.2015.08.050pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/?term=26318482pt_BR
dc.date.available2016-05-23T19:41:10Z-
dc.date.accessioned2016-05-23T19:41:10Z-
dc.description.provenanceMade available in DSpace on 2016-05-23T19:41:10Z (GMT). No. of bitstreams: 1 pmed_26318482.pdf: 703125 bytes, checksum: 4cf42e2db9446dce5df049e3a99d9c51 (MD5) Previous issue date: 2015en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/235472-
dc.identifier.idPubmed26318482pt_BR
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