De Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case

dc.creatorSimioni
dc.creatorMilena; Steiner
dc.creatorCarlos Eduardo; Gil-da-Silva-Lopes
dc.creatorVera Lucia
dc.date2015-Nov
dc.date2016-06-07T13:16:52Z
dc.date2016-06-07T13:16:52Z
dc.date.accessioned2018-03-29T01:37:29Z
dc.date.available2018-03-29T01:37:29Z
dc.identifier
dc.identifierDe Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case. Elsevier Science Bv, v. 573, p. 166-170 Nov-2015.
dc.identifier0378-1119
dc.identifierWOS:000362304900019
dc.identifier10.1016/j.gene.2015.08.050
dc.identifierhttp://www.sciencedirect.com/science/article/pii/S0378111915010203
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/242196
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1305894
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionReciprocal translocations are one of the most 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. (C) 2015 Elsevier B.V. All rights reserved.
dc.description573
dc.description1
dc.description
dc.description166
dc.description170
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFAPESP [2011/23794-7, 2012/10071-0]
dc.descriptionCNPq [304455/2012-1]
dc.description
dc.description
dc.description
dc.languageen
dc.publisherELSEVIER SCIENCE BV
dc.publisher
dc.publisherAMSTERDAM
dc.relationGENE
dc.rightsembargo
dc.sourceWOS
dc.subjectGenomic Rearrangements
dc.subjectDevelopmental Delay
dc.subjectArray-cgh
dc.subjectComplex
dc.subjectAbnormalities
dc.subjectBreakpoints
dc.subjectImbalances
dc.subjectMechanisms
dc.subjectPhenotype
dc.subjectDeletions
dc.titleDe Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case
dc.typeArtículos de revistas


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