title: Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.
abstract: 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 toFLI1hemizygous 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 theFLI1gene 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.
authors.affiliation: Department of Genetics, University of São Paulo (USP), Brazil.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Galvão Gomes
authors.affiliation: Department of Genetics, University of São Paulo (USP), Brazil; Department of Division of Clinical Genetics, Clinical Hospital of Ribeirão Preto, Ribeirão Preto, Brazil.
authors.forename: Carlos H
authors.initials: CH
authors.lastname: Paiva Grangeiro
authors.affiliation: Department of Pediatric Clinic, Federal University of Uberlândia, Minas Gerais, Brazil.
authors.forename: Luiz R
authors.initials: LR
authors.lastname: Silva
authors.affiliation: Department of Genetics, University of São Paulo (USP), Brazil.
authors.forename: Flávia G
authors.initials: FG
authors.lastname: Oliveira-Gennaro
authors.affiliation: Department of Center of Biotechnology and Cell Therapy, São Rafael Hospital, Salvador, Brazil.
authors.forename: Ciro S
authors.initials: CS
authors.lastname: Pereira
authors.affiliation: Department of Genetics, University of São Paulo (USP), Brazil.
authors.forename: Tatiana M
authors.initials: TM
authors.lastname: Joaquim
authors.affiliation: Department of Center for Cell-Based Therapy and Regional Blood Center, University of São Paulo (USP), Brazil.
authors.forename: Rodrigo A
authors.initials: RA
authors.lastname: Panepucci
authors.affiliation: Department of Genetics, University of São Paulo (USP), Brazil; Department of Pathology and Forensic Medicine, University of São Paulo (USP), Brazil.
authors.forename: Jeremy A
authors.initials: JA
authors.lastname: Squire
authors.affiliation: Department of Genetics, University of São Paulo (USP), Brazil; Department of Division of Clinical Genetics, Clinical Hospital of Ribeirão Preto, Ribeirão Preto, Brazil.
authors.forename: Lucia
authors.initials: L
authors.lastname: Martelli
keywords: Comparative genomic hybridization; Deletion 11q; FLI1; Jacobsen syndrome; Ring chromosome; Thrombocytopenia Paris-Trousseau type