A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

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Autor(es): dc.contributorJohns Hopkins University School of Medicine-
Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.contributorUniversity of South Alabama, College of Medicine-
Autor(es): dc.contributorKennedy Krieger Institute-
Autor(es): dc.creatorBatista, Denise A.S.-
Autor(es): dc.creatorTuck-Muller, Cathy M.-
Autor(es): dc.creatorMartinez, Jose E.-
Autor(es): dc.creatorKearns, William G.-
Autor(es): dc.creatorPearson, Peter L.-
Autor(es): dc.creatorStetten, Gail-
Data de aceite: dc.date.accessioned2025-08-21T18:21:21Z-
Data de disponibilização: dc.date.available2025-08-21T18:21:21Z-
Data de envio: dc.date.issued2022-04-29-
Data de envio: dc.date.issued2022-04-29-
Data de envio: dc.date.issued1993-09-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1007/BF00219677-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/230878-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/230878-
Descrição: dc.descriptionWe report of case of a complex chromosomal rearrangement detected prenatally and studied with traditional banding methods and fluorescence in situ hybridization. The combination of these techniques showed that four chromosomes were involved in the translocation. Nine breakpoints were proposed to explain these results. Some of the findings could only be detected with fluorescence in situ hybridization, demonstrating the usefulness of this technique in characterizing chromosomal abnormalities that would otherwise be difficult to interpret correctly with classical cytogenetics alone. © 1993 Springer-Verlag.-
Descrição: dc.descriptionDepartment of Gynecology and Obstetrics Johns Hopkins University School of Medicine, Baltimore, 21287-2501, MD-
Descrição: dc.descriptionDepartment of Genetics, Biosciences Institute University of São Paulo State, Botucatu, SP-
Descrição: dc.descriptionDepartment of Medical Genetics University of South Alabama, College of Medicine, Mobile-
Descrição: dc.descriptionDepartment of Medicine Johns Hopkins University School of Medicine, 21287-2501, MD-
Descrição: dc.descriptionKennedy Krieger Institute, Baltimore, Maryland-
Descrição: dc.descriptionDepartment of Pediatrics Johns Hopkins University School of Medicine, Baltimore, 21287-2501, MD-
Formato: dc.format117-121-
Idioma: dc.languageen-
Relação: dc.relationHuman Genetics-
???dc.source???: dc.sourceScopus-
Título: dc.titleA complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization-
Tipo de arquivo: dc.typelivro digital-
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