Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 -> pter and partial trisomy 1q41 -> qter suggests neo-telomere formation in stabilizing the deleted chromosome

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dc.contributor.authorKulikowski, L. D.
dc.contributor.authorChrist, L. A.
dc.contributor.authorBelangero, Sintia Iole [UNIFESP]
dc.contributor.authorBrunoni, D.
dc.contributor.authorSchwartz, S.
dc.contributor.authorMelaragno, M. I.
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionCase Western Reserve Univ
dc.contributor.institutionUniv Hosp Cleveland
dc.contributor.institutionUniv Chicago
dc.date.accessioned2016-01-24T12:38:15Z
dc.date.available2016-01-24T12:38:15Z
dc.date.issued2006-01-01
dc.description.abstractWe report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high-resolution GTG handing and fluorescence in situ hybridization (FISH) with several probes, including bacterial artificial chromosomes (BACs), the karyotype was defined as 46,XX,del(9)(p23)[54]/ 46,XX,der(9)t(1;9)(q41;p23)[461, indicating the presence of monosomy 9p23 in all cells and trisomy 1q41 in approximately 50% of the cells. the patient studied presents most of the manifestations of the 9p deletion and 1q duplication syndromes. the breakpoint was mapped at 9p23 with a loss of approximately 13.9-Mb of DNA. the duplicated segment consists of approximately 35 Mb from 1q41-qter region. We also suggest that a mechanism for telomere capture and interstitial telomeric sequences (ITs) is involved in a neotelomere formation in one of the cell lines. This study highlights the importance of combining high-resolution chromosome and FISH with BACs in order to make genotype -phenotype correlations and to understand the mechanisms involved chromosomal aberrations. (c) 2005 Wiley-Liss, Inc.en
dc.description.affiliationUniversidade Federal de São Paulo, Disciplina Genet, Dept Morphol, Div Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationCase Western Reserve Univ, Ctr Human Genet, Cleveland, OH 44106 USA
dc.description.affiliationCase Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA
dc.description.affiliationUniv Hosp Cleveland, Cleveland, OH 44106 USA
dc.description.affiliationUniv Chicago, Dept Human Genet, Chicago, IL 60637 USA
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Disciplina Genet, Dept Morphol, Div Genet, BR-04023900 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent82-87
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.31045
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 140A, n. 1, p. 82-87, 2006.
dc.identifier.doi10.1002/ajmg.a.31045
dc.identifier.issn1552-4825
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/28622
dc.identifier.wosWOS:000234476900012
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectneo-telomereen
dc.subjectmonosomy 9pen
dc.subjecttrisomy 1qen
dc.subjectFISH-BACsen
dc.titleBreakpoint mapping in a case of mosaicism with partial monosomy 9p23 -> pter and partial trisomy 1q41 -> qter suggests neo-telomere formation in stabilizing the deleted chromosomeen
dc.typeinfo:eu-repo/semantics/article
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