Duplication 9p and their implication to phenotype

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dc.contributor.authorGuilherme, Roberta Santos [UNIFESP]
dc.contributor.authorMeloni, Vera Ayres [UNIFESP]
dc.contributor.authorPerez, Ana Beatriz Alvarez [UNIFESP]
dc.contributor.authorPilla, Ana Luiza [UNIFESP]
dc.contributor.authorRamos, Marco Antonio Paula de [UNIFESP]
dc.contributor.authorDantas, Anelisa Gollo [UNIFESP]
dc.contributor.authorTakero, Sylvia Satomi [UNIFESP]
dc.contributor.authorKulikowski, Leslie Domenici
dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.date.accessioned2016-01-24T14:38:19Z
dc.date.available2016-01-24T14:38:19Z
dc.date.issued2014-12-20
dc.description.abstractBackground: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them involving 9p centromere alterations.Methods: the rearrangements in the patients were characterized by G-banding, SNP-array and fluorescent in situ hybridization (FISH) with different probes.Results: Two patients presented de novo dicentric chromosomes: der(9; 15)t(9; 15)(p11.2;p13) and der(9; 21)t(9; 21) (p13.1;p13.1). One patient presented two concomitant rearranged chromosomes: a der(12)t(9; 12)(q21.13;p13.33) and an psu i(9)(p10) which showed FISH centromeric signal smaller than in the normal chromosome 9. Besides the duplication 9p24.3p13.1, array revealed a 7.3 Mb deletion in 9q13q21.13 in this patient. the break in the psu i(9) (p10) probably occurred in the centromere resulting in a smaller centromere and with part of the 9q translocated to the distal 12p with the deletion 9q occurring during this rearrangement. Two patients, brother and sister, present 9p duplication concomitant to 18p deletion due to an inherited der(18)t(9; 18)(p11.2; p11.31) mat.Conclusions: the patients with trisomy 9p present a well-recognizable phenotype due to facial appearance, although the genotype-phenotype correlation can be difficult due to concomitant partial monosomy of other chromosomes. the chromosome 9 is rich in segmental duplication, especially in pericentromeric region, with high degree of sequence identity to sequences in 15p, 18p and 21p, chromosomes involved in our rearrangements. Thus, we suggest that chromosome 9 is prone to illegitimate recombination, either intrachromosomal or interchromosomal, which predisposes it to rearrangements, frequently involving pericentromeric regions.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Morphol & Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Dept Pathol, Lab Citogen, BR-05403000 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Morphol & Genet, BR-04023900 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipIDFAPESP: 2012/51150-0
dc.description.sponsorshipIDFAPESP: 2012/15572-7
dc.format.extent8
dc.identifierhttp://dx.doi.org/10.1186/s12881-014-0142-1
dc.identifier.citationBmc Medical Genetics. London: Biomed Central Ltd, v. 15, 8 p., 2014.
dc.identifier.doi10.1186/s12881-014-0142-1
dc.identifier.fileWOS000348677600001.pdf
dc.identifier.issn1471-2350
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/38560
dc.identifier.wosWOS:000348677600001
dc.language.isoeng
dc.publisherBiomed Central Ltd
dc.relation.ispartofBmc Medical Genetics
dc.rightsAcesso aberto
dc.subject9p duplicationen
dc.subjectTrisomy 9pen
dc.subjectCentromereen
dc.subjectFISHen
dc.subjectSNP-arrayen
dc.subjectKaryotype-phenotype correlationen
dc.titleDuplication 9p and their implication to phenotypeen
dc.typeArtigo
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