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Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.
Galvão Gomes, Alexandra; Paiva Grangeiro, Carlos H; Silva, Luiz R; Oliveira-Gennaro, Flávia G; Pereira, Ciro S; Joaquim, Tatiana M; Panepucci, Rodrigo A; Squire, Jeremy A; Martelli, Lucia.
Afiliação
  • Galvão Gomes A; Department of Genetics, University of São Paulo (USP), Brazil.
  • Paiva Grangeiro CH; Department of Genetics, University of São Paulo (USP), Brazil; Department of Division of Clinical Genetics, Clinical Hospital of Ribeirão Preto, Ribeirão Preto, Brazil.
  • Silva LR; Department of Pediatric Clinic, Federal University of Uberlândia, Minas Gerais, Brazil.
  • Oliveira-Gennaro FG; Department of Genetics, University of São Paulo (USP), Brazil.
  • Pereira CS; Department of Center of Biotechnology and Cell Therapy, São Rafael Hospital, Salvador, Brazil.
  • Joaquim TM; Department of Genetics, University of São Paulo (USP), Brazil.
  • Panepucci RA; Department of Center for Cell-Based Therapy and Regional Blood Center, University of São Paulo (USP), Brazil.
  • Squire JA; Department of Genetics, University of São Paulo (USP), Brazil; Department of Pathology and Forensic Medicine, University of São Paulo (USP), Brazil.
  • Martelli L; Department of Genetics, University of São Paulo (USP), Brazil; Department of Division of Clinical Genetics, Clinical Hospital of Ribeirão Preto, Ribeirão Preto, Brazil.
Mol Syndromol ; 8(1): 45-49, 2017 Jan.
Article em En | MEDLINE | ID: mdl-28232783
Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving terminal chromosome 11q. The haploinsufficiency of multiple genes contributes to the overall clinical phenotype, which can include the variant Paris-Trousseau syndrome, a transient thrombocytopenia related to FLI1 hemizygous deletion. We investigated a boy with features of JBS using classic cytogenetic methods, FISH and high-resolution array CGH. The proband was found to have a mosaic ring chromosome 11 resulting in a hemizygous 11q terminal deletion of 8.6 Mb, leading to a copy number loss of 52 genes. The patient had a hemizygous deletion in the FLI1 gene region without apparent thrombocytopenia, and he developed diabetes mellitus type I, which has not previously been described in the spectrum of disorders associated with JBS. The relationship of some of the genes within the context of the phenotype caused by a partial deletion of 11q has provided insights concerning the developmental anomalies presented in this patient with atypical features of JBS.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article