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dc.contributor.authorGamba, Bruno Faulin
dc.contributor.authorRichieri-Costa, Antônio
dc.contributor.authorCosta, Silvia
dc.contributor.authorRosenberg, Carla
dc.contributor.authorRibeiro-Bicudo, Lucilene Arilho
dc.identifier.citationMolecular Genetics and Genomics, v. 290, n. 6, p. 2213-2216, 2015.
dc.description.abstractTerminal 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.en
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.relation.ispartofMolecular Genetics and Genomics
dc.subjectComplex chromosomal rearrangement
dc.subjectMultiple congenital anomalies
dc.titleChromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomaliesen
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionFederal University of Goias
dc.description.affiliationDepartment of Genetics Institute of Biosciences University of São Paulo State
dc.description.affiliationSyndromology Division Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) University of São Paulo
dc.description.affiliationDepartment of Genetics and Evolutionary Biology Institute of Biosciences University of São Paulo
dc.description.affiliationDepartment of Genetics Institute of Biosciences Federal University of Goias
dc.description.sponsorshipIdCNPq: 306741/2012-1
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