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Morris ML, Baroneza JE, Teixeira P, et al. Partial 1q Duplications and Associated Phenotype. Mol Syndromol. 2016;6(6):297-303doi: 10.1159/000443599.
Morris, M. L., Baroneza, J. E., Teixeira, P., Medina, C. T., Cordoba, M. S., Versiani, B. R., Roese, L. L., Freitas, E. L., Fonseca, A. C., Dos Santos, M. C., Pic-Taylor, A., Rosenberg, C., Oliveira, S. F., Ferrari, I., & Mazzeu, J. F. (2016). Partial 1q Duplications and Associated Phenotype. Molecular syndromology, 6(6), 297-303. https://doi.org/10.1159/000443599
Morris, Marcos L M, et al. "Partial 1q Duplications and Associated Phenotype." Molecular syndromology vol. 6,6 (2016): 297-303. doi: https://doi.org/10.1159/000443599
Morris ML, Baroneza JE, Teixeira P, Medina CT, Cordoba MS, Versiani BR, Roese LL, Freitas EL, Fonseca AC, Dos Santos MC, Pic-Taylor A, Rosenberg C, Oliveira SF, Ferrari I, Mazzeu JF. Partial 1q Duplications and Associated Phenotype. Mol Syndromol. 2016 Feb;6(6):297-303. doi: 10.1159/000443599. Epub 2016 Feb 04. PMID: 27022331; PMCID: PMC4803000.
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Mol Syndromol. 2016 Feb;6(6):297-303. doi: 10.1159/000443599. Epub 2016 Feb 04.

Partial 1q Duplications and Associated Phenotype.

Molecular syndromology

Marcos L M Morris, José E Baroneza, Patricia Teixeira, Cristina T N Medina, Mara S Cordoba, Beatriz R Versiani, Liege L Roese, Erika L Freitas, Ana C S Fonseca, Maria C G Dos Santos, Aline Pic-Taylor, Carla Rosenberg, Silviene F Oliveira, Iris Ferrari, Juliana F Mazzeu

Affiliations

  1. Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil.
  2. Universidade Positivo, São Paulo, Brazil; Programa de Pós-graduação em Biologia Celular e Molecular, Universidade Federal do Paraná, Curitiba São Paulo, Brazil.
  3. Secretaria de Estado de Saúde do Distrito Federal, Brasilia, São Paulo, Brazil.
  4. Rede Sarah de Hospitais de Reabilitação, Brasília, São Paulo, Brazil.
  5. Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
  6. Programa de Pós-graduação em Biologia Celular e Molecular, Universidade Federal do Paraná, Curitiba São Paulo, Brazil.
  7. Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil; Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, São Paulo, Brazil.
  8. Faculdade de Medicina, Universidade de Brasília, São Paulo, Brazil.
  9. Programa de Pós-graduação em Ciências da Saúde, São Paulo, Brazil; Faculdade de Medicina, Universidade de Brasília, São Paulo, Brazil.

PMID: 27022331 PMCID: PMC4803000 DOI: 10.1159/000443599

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.

Keywords: Array CGH; Distal partial duplication 1q; Duplication 1q41q43; Duplication 1q42.13; FISH

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