Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/28679
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dc.contributor.authorKrepischi-Santos, A. C. V.
dc.contributor.authorVianna-Morgante, A. M.
dc.contributor.authorJehee, F. S.
dc.contributor.authorPassos-Bueno, M. R.
dc.contributor.authorKnijnenburg, J.
dc.contributor.authorSzuhai, K.
dc.contributor.authorSloos, W.
dc.contributor.authorMazzeu, J. F.
dc.contributor.authorKok, F.
dc.contributor.authorCheroki, C.
dc.contributor.authorOtto, P. A.
dc.contributor.authorMingroni-Netto, R. C.
dc.contributor.authorVarela, M.
dc.contributor.authorKoiffmann, C.
dc.contributor.authorKim, C. A.
dc.contributor.authorBertola, D. R.
dc.contributor.authorPearson, P. L.
dc.contributor.authorRosenberg, C.
dc.date.accessioned2016-01-24T12:40:53Z-
dc.date.available2016-01-24T12:40:53Z-
dc.date.issued2006-01-01
dc.identifierhttp://dx.doi.org/10.1159/000095922
dc.identifier.citationCytogenetic and Genome Research. Basel: Karger, v. 115, n. 3-4, p. 254-261, 2006.
dc.identifier.issn1424-8581
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/28679-
dc.description.abstractWe report array-CGH screening of 95 syndromic patients with normal G-banded karyotypes and at least one of the following features: mental retardation, heart defects, deafness, obesity, craniofacial dysmorphisms or urogenital tract malformations. Chromosome imbalances not previously detected in normal controls were found in 30 patients (31%) and at least 16 of them (17%) seem to be causally related to the abnormal phenotypes. Eight of the causative imbalances had not been described previously and pointed to new chromosome regions and candidate genes for specific phenotypes, including a connective tissue disease locus on 2p16.3, another for obesity on 7q22.1 -> q22.3, and a candidate gene for the 3q29 deletion syndrome manifestations. the other causative alterations had already been associated with well-defined phenotypes including Sotos syndrome, and the 1p36 and 22q11.21 microdeletion syndromes. However, the clinical features of these latter patients were either not typical or specific enough to allow diagnosis before detection of chromosome imbalances. for instance, three patients with overlapping deletions in 22q11.21 were ascertained through entirely different clinical features, i.e., heart defect, utero-vaginal aplasia, and mental retardation associated with psychotic disease. Our results demonstrate that ascertainment through whole-genome screening of syndromic patients by array-CGH leads not only to the description of new syndromes, but also to the recognition of a broader spectrum of features for already described syndromes. Furthermore, on the technical side, we have significantly reduced the amount of reagents used and costs involved in the array-CGH protocol, without evident reduction in efficiency, bringing the method more within reach of centers with limited budgets. Copyright (c) 2006 S. Karger AG, Basel.en
dc.format.extent254-261
dc.language.isoeng
dc.publisherKarger
dc.relation.ispartofCytogenetic and Genome Research
dc.rightsAcesso restrito
dc.titleWhole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterationsen
dc.typeArtigo
dc.rights.licensehttp://www.karger.com/Services/RightsPermissions
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionLeiden Univ
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionRobinow Syndrome Fdn
dc.description.affiliationUniv São Paulo, Inst Biociencias, Dept Genet & Biol Evolut, BR-05422970 São Paulo, Brazil
dc.description.affiliationLeiden Univ, Med Ctr, Dept Mol Cell Biol, Leiden, Netherlands
dc.description.affiliationHosp Clin São Paulo, Dept Neurol, São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Inst Crianca, Dept Pediat, Genet Unit, São Paulo, Brazil
dc.description.affiliationRobinow Syndrome Fdn, Anoka, MN USA
dc.identifier.doi10.1159/000095922
dc.description.sourceWeb of Science
dc.identifier.wosWOS:000242391500009
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