High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

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dc.contributor.author Jehee, F. S.
dc.contributor.author Krepischi-Santos, A. C. V.
dc.contributor.author Rocha, K. M.
dc.contributor.author Cavalcanti, D. P.
dc.contributor.author Kim, C. A.
dc.contributor.author Bertola, D. R.
dc.contributor.author Alonso, L. G. [UNIFESP]
dc.contributor.author D'Angelo, C. S.
dc.contributor.author Mazzeu, J. F.
dc.contributor.author Froyen, G.
dc.contributor.author Lugtenberg, D.
dc.contributor.author Vianna-Morgante, A. M.
dc.contributor.author Rosenberg, C.
dc.contributor.author Passos-Bueno, M. R.
dc.date.accessioned 2016-01-24T13:51:33Z
dc.date.available 2016-01-24T13:51:33Z
dc.date.issued 2008-07-01
dc.identifier http://dx.doi.org/10.1136/jmg.2007.057042
dc.identifier.citation Journal of Medical Genetics. London: B M J Publishing Group, v. 45, n. 7, p. 447-450, 2008.
dc.identifier.issn 0022-2593
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/30794
dc.description.abstract We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. in total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric multiplex ligation-dependent probe amplification) and whole-genome array-based comparative genome hybridisation. Causative abnormalities were present in 42.2% (19/45) of the samples, and 27.8% (10/36) of the patients with normal conventional karyotype carried submicroscopic imbalances. Our results include a wide variety of imbalances and point to novel chromosomal regions associated with craniosynostosis. the high incidence of pure duplications or trisomies suggests that these are important mechanisms in craniosynostosis, particularly in cases involving the metopic suture. en
dc.format.extent 447-450
dc.language.iso eng
dc.publisher B M J Publishing Group
dc.relation.ispartof Journal of Medical Genetics
dc.rights Acesso restrito
dc.title High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation en
dc.type Artigo
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Universidade Estadual de Campinas (UNICAMP)
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Katholieke Univ Leuven
dc.contributor.institution VIB
dc.contributor.institution Radboud Univ Nijmegen
dc.description.affiliation Univ São Paulo, Ctr Estudos Genoma Humano, Dept Genet & Biol Evolutiva, Inst Biociencias, BR-05508900 São Paulo, Brazil
dc.description.affiliation Univ Estadual Campinas, Fac Ciencias Med, Dept Med Genet, São Paulo, Brazil
dc.description.affiliation Univ São Paulo, Fac Med, Hosp Clin, Inst Crianca, BR-09500900 São Paulo, Brazil
dc.description.affiliation UNIFESP EPM, Dept Morfol, Ctr Genet Med, São Paulo, Brazil
dc.description.affiliation UNIFESP EPM, Dept Pediat, Ctr Genet Med, São Paulo, Brazil
dc.description.affiliation Katholieke Univ Leuven, Dept Human Genet, Human Genome Lab, Louvain, Belgium
dc.description.affiliation VIB, Dept Mol & Dev Genet, Louvain, Belgium
dc.description.affiliation Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
dc.description.affiliationUnifesp UNIFESP EPM, Dept Morfol, Ctr Genet Med, São Paulo, Brazil
dc.description.affiliationUnifesp UNIFESP EPM, Dept Pediat, Ctr Genet Med, São Paulo, Brazil
dc.identifier.doi 10.1136/jmg.2007.057042
dc.description.source Web of Science
dc.identifier.wos WOS:000257289000008



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