title: Partial 1q Duplications and Associated Phenotype.
abstract: Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome. Here, we report 2 patients with overlapping 1q duplications detected by G-banding. Array CGH and FISH were performed to characterize the duplicated segments, exclude the involvement of other chromosomes and determine the orientation of the duplication. Patient 1 presents with a mild phenotype and carries a 22.5-Mb 1q41q43 duplication. Patient 2 presents with a pure 1q42.13qter inverted duplication of 21.5 Mb, one of the smallest distal 1q duplications ever described and one of the few cases characterized by array CGH, thus contributing to a better characterization of distal 1q duplication syndrome.
authors.affiliation: Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil.
authors.forename: Marcos L M
authors.initials: ML
authors.lastname: Morris
authors.affiliation: Universidade Positivo, São Paulo, Brazil; Programa de Pós-graduação em Biologia Celular e Molecular, Universidade Federal do Paraná, Curitiba São Paulo, Brazil.
authors.forename: José E
authors.initials: JE
authors.lastname: Baroneza
authors.affiliation: Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Teixeira
authors.affiliation: Secretaria de Estado de Saúde do Distrito Federal, Brasilia, São Paulo, Brazil.
authors.forename: Cristina T N
authors.initials: CT
authors.lastname: Medina
authors.affiliation: Secretaria de Estado de Saúde do Distrito Federal, Brasilia, São Paulo, Brazil.
authors.forename: Mara S
authors.initials: MS
authors.lastname: Cordoba
authors.affiliation: Secretaria de Estado de Saúde do Distrito Federal, Brasilia, São Paulo, Brazil.
authors.forename: Beatriz R
authors.initials: BR
authors.lastname: Versiani
authors.affiliation: Rede Sarah de Hospitais de Reabilitação, Brasília, São Paulo, Brazil.
authors.forename: Liege L
authors.initials: LL
authors.lastname: Roese
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Erika L
authors.initials: EL
authors.lastname: Freitas
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Ana C S
authors.initials: AC
authors.lastname: Fonseca
authors.affiliation: Programa de Pós-graduação em Biologia Celular e Molecular, Universidade Federal do Paraná, Curitiba São Paulo, Brazil.
authors.forename: Maria C G
authors.initials: MC
authors.lastname: Dos Santos
authors.affiliation: Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil; Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, São Paulo, Brazil.
authors.forename: Aline
authors.initials: A
authors.lastname: Pic-Taylor
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.affiliation: Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil; Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, São Paulo, Brazil.
authors.forename: Silviene F
authors.initials: SF
authors.lastname: Oliveira
authors.affiliation: Faculdade de Medicina, Universidade de Brasília, São Paulo, Brazil.
authors.forename: Iris
authors.initials: I
authors.lastname: Ferrari
authors.affiliation: Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil; Faculdade de Medicina, Universidade de Brasília, São Paulo, Brazil.
authors.forename: Juliana F
authors.initials: JF
authors.lastname: Mazzeu
keywords: Array CGH; Distal partial duplication 1q; Duplication 1q41q43; Duplication 1q42.13; FISH