title: Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.
abstract: Terminal 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.
authors.affiliation: Department of Genetics, Institute of Biosciences, University of São Paulo State, Botucatu, SP, Brazil.
authors.forename: Bruno Faulin
authors.initials: BF
authors.lastname: Gamba
authors.affiliation: Syndromology Division, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.
authors.forename: Antônio
authors.initials: A
authors.lastname: Richieri-Costa
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
authors.forename: Silvia
authors.initials: S
authors.lastname: Costa
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.affiliation: Department of Genetics, Institute of Biosciences, University of São Paulo State, Botucatu, SP, Brazil. arilho@yahoo.com.|Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, GO, Brazil. arilho@yahoo.com.
authors.forename: Lucilene Arilho
authors.initials: LA
authors.lastname: Ribeiro-Bicudo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007231:Infant, Newborn; D008297:Male
keywords: Array-CGH; Chromothripsis; Complex chromosomal rearrangement; Multiple congenital anomalies