title: Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.
abstract: Genome rearrangements are caused by the erroneous repair of DNA double-strand breaks, leading to several alterations that result in loss or gain of the structural genomic of a dosage-sensitive genes. However, the mechanisms that promote the complexity of rearrangements of congenital or developmental defects in human disease are unclear. The investigation of complex genomic abnormalities could help to elucidate the mechanisms and causes for the formation and facilitate the understanding of congenital or developmental defects in human disease. We here report one case of a patient with atypical clinical features of the 1p36 syndrome and the use of cytogenomic techniques to characterize the genomic alterations. Analysis by multiplex ligation-dependent probe amplification and array revealed a complex rearrangement in the 1p36.3 region with deletions and duplication interspaced by normal sequences. We also suggest that chromoanagenesis could be a possible mechanism involved in the repair and stabilization of this rearrangement.
authors.affiliation: Department of Pathology, Laboratório de Citogenômica, LIM 03, Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 2° floor, block 12, Cerqueira César, São Paulo, SP, CEP: 05403-000, Brazil, evelinzanardo@yahoo.com.br.
authors.forename: Évelin Aline
authors.initials: ÉA
authors.lastname: Zanardo
authors.forename: Flavia Balbo
authors.initials: FB
authors.lastname: Piazzon
authors.forename: Roberta Lelis
authors.initials: RL
authors.lastname: Dutra
authors.forename: Alexandre Torchio
authors.initials: AT
authors.lastname: Dias
authors.forename: Marília Moreira
authors.initials: MM
authors.lastname: Montenegro
authors.forename: Gil Monteiro
authors.initials: GM
authors.lastname: Novo-Filho
authors.forename: Thaís Virgínia Moura Machado
authors.initials: TV
authors.lastname: Costa
authors.forename: Amom Mendes
authors.initials: AM
authors.lastname: Nascimento
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007223:Infant