Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

Registro completo de metadados
MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.contributorFederal University of Goias-
Autor(es): dc.creatorGamba, Bruno Faulin-
Autor(es): dc.creatorRichieri-Costa, Antônio-
Autor(es): dc.creatorCosta, Silvia-
Autor(es): dc.creatorRosenberg, Carla-
Autor(es): dc.creatorRibeiro-Bicudo, Lucilene Arilho-
Data de aceite: dc.date.accessioned2022-08-04T22:05:06Z-
Data de disponibilização: dc.date.available2022-08-04T22:05:06Z-
Data de envio: dc.date.issued2022-04-28-
Data de envio: dc.date.issued2022-04-28-
Data de envio: dc.date.issued2015-12-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1007/s00438-015-1072-0-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/220501-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/220501-
Descrição: dc.descriptionTerminal deletion in the short arm of chromosome 1 results in a disorder described as 1p36 deletion syndrome. The resulting phenotype varies among patients including mental retardation, developmental delay, sensorineural hearing loss, seizures, heart defects, and distinct facies. In the present case, we performed array-comparative genomic hybridization in a boy with multiple congenital malformations presenting some features overlapping the 1p36 deletion phenotype for whom chromosomal analysis did not reveal a terminal deletion in 1p. Results showed complex chromosome rearrangements involving the 1p36.33-p35.3 region. While the mechanism of origin of these rearrangements is still unclear, chromothripsis—a single catastrophic event leading to shattering chromosomes or chromosome regions and rejoining of the segments—has been described to occur in a fraction of cancers. The presence of at least 12 clustered breaks at 1p and apparent lack of mosaicism in the present case suggests that a single event like chromothripsis occurred. This finding suggests that chromothripsis is responsible for some constitutive complex chromosome rearrangements.-
Descrição: dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)-
Descrição: dc.descriptionDepartment of Genetics Institute of Biosciences University of São Paulo State-
Descrição: dc.descriptionSyndromology Division Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) University of São Paulo-
Descrição: dc.descriptionDepartment of Genetics and Evolutionary Biology Institute of Biosciences University of São Paulo-
Descrição: dc.descriptionDepartment of Genetics Institute of Biosciences Federal University of Goias-
Descrição: dc.descriptionCNPq: 306741/2012-1-
Formato: dc.format2213-2216-
Idioma: dc.languageen-
Relação: dc.relationMolecular Genetics and Genomics-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectArray-CGH-
Palavras-chave: dc.subjectChromothripsis-
Palavras-chave: dc.subjectComplex chromosomal rearrangement-
Palavras-chave: dc.subjectMultiple congenital anomalies-
Título: dc.titleChromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

Não existem arquivos associados a este item.