Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches

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dc.creatorMinasi, Lysa Bernardes
dc.creatorPinto, Irene Plaza
dc.creatorAlmeida, Jonas Garcia de
dc.creatorMelo, Aldaires Vieira de
dc.creatorCunha, Damiana Míriam da Cruz e
dc.creatorRibeiro, Cristiano Luiz
dc.creatorSilva, Gustavo Pinto
dc.creatorBrasil, Maria das Graças Nunes
dc.creatorSilva, Daniela de Melo e
dc.creatorSilva, Cláudio Carlos da
dc.creatorCruz, Aparecido Divino da
dc.date.accessioned2018-08-02T11:23:49Z
dc.date.available2018-08-02T11:23:49Z
dc.date.issued2015-03
dc.description.abstractWe describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showed the absence of 13qter and the presence of 13q14.3 in the cells with r(13), and chromosome microarray analysis detected a 15.39 Mb deletion in chromosome region 13q32.3-q34. This study is intended as the registry of a rare case of chromosomal rearrangement involving chromosome 13 in Central Brazil. Further studies are needed to define whether genetic haploinsufficiency is associated with each major 13q deletion anomaly.pt_BR
dc.identifier.citationMINASI, L. B.; PINTO, I. P.; DE ALMEIDA, J. G. de; MELO, A. V. de; CUNHA, D. M. C.; RIBEIRO, C. L.; SILVA, G. P.; BRASIL, M. G.; SILVA, D. M.; SILVA, C. C. da; CRUZ, A. D. da. Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches. Genetics and Molecular Research, Ribeirão Preto, v. 14, n. 1, p. 1692-1699, Mar. 2015.pt_BR
dc.identifier.doi10.4238/2015.March.6.15
dc.identifier.issne- 1676-5680
dc.identifier.urihttp://repositorio.bc.ufg.br/handle/ri/15519
dc.language.isoengpt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentInstituto de Ciências Biológicas - ICB (RG)pt_BR
dc.rightsAcesso Abertopt_BR
dc.subject13q deletionpt_BR
dc.subjectRing chromosome 13pt_BR
dc.subjectComplex phenotypept_BR
dc.subjectFluorescence in situ hybridizationpt_BR
dc.subjectChromosomal microarray analysispt_BR
dc.subjectKaryotypept_BR
dc.titlePostnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approachespt_BR
dc.typeArtigopt_BR

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