Prenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: Perspectives for a new diagnostic tool

dc.creatorHeinrich, JKR
dc.creatorMachado, IN
dc.creatorVivas, L
dc.creatorBianchi, MO
dc.creatorAndrade, KC
dc.creatorSbragia, L
dc.creatorBarini, R
dc.date2007
dc.date2014-11-14T19:32:56Z
dc.date2015-11-26T16:08:12Z
dc.date2014-11-14T19:32:56Z
dc.date2015-11-26T16:08:12Z
dc.date.accessioned2018-03-28T22:56:45Z
dc.date.available2018-03-28T22:56:45Z
dc.identifierFetal Diagnosis And Therapy. Karger, v. 22, n. 5, n. 361, n. 364, 2007.
dc.identifier1015-3837
dc.identifierWOS:000248239100010
dc.identifier10.1159/000103297
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/80987
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/80987
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/80987
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1266296
dc.descriptionObjectives: To describe the molecular analysis through comparative genomic hybridization (CGH) of fetuses with gastroschisis, and to observe if this technique could improve the resolution of the conventional cytogenetic techniques. Methods: Amniotic analysis of fetuses with gastroschisis, using both conventional (G-banding) and molecular (CGH) cytogenetics assays. Results: All of the seven fetuses studied displayed a normal G-band karyotype. Six fetuses displayed a normal disomic profile through CGH and one sample has displayed ish cgh enh 3q26 -> qter result (ICSN). The fetus with this imbalance of chromosome 3 was re-classified as a ruptured omphalocele, instead of gastroschisis, after birth. Conclusions: The molecular investigation through CGH technique can improve the resolution of the conventional karyotye analysis in cases of abdominal wall defects. Copyright (c) 2007 S. Karger AG, Basel.
dc.description22
dc.description5
dc.description361
dc.description364
dc.languageen
dc.publisherKarger
dc.publisherBasel
dc.publisherSuíça
dc.relationFetal Diagnosis And Therapy
dc.relationFetal Diagn. Ther.
dc.rightsaberto
dc.rightshttp://www.karger.com/Services/RightsPermissions
dc.sourceWeb of Science
dc.subjectgastroschisis
dc.subjectomphalocele
dc.subjectkaryotype
dc.subjectcomparative genomic hybridization
dc.subjectMolecular Cytogenetic Analysis
dc.subjectGastroschisis
dc.subjectOmphalocele
dc.subjectFetus
dc.subjectAbnormalities
dc.subjectKaryotype
dc.titlePrenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: Perspectives for a new diagnostic tool
dc.typeArtículos de revistas


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