title: Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
abstract: Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 opposite growth-affecting disorders. The common molecular cause for both syndromes is an abnormal regulation of genes in chromosomal region 11p15, where 2 imprinting control regions (ICR) control fetal and postnatal growth. Also, many submicroscopic chromosomal disturbances like duplications in 11p15 have been described among SRS and BWS patients. Duplications involving both ICRs cause SRS or BWS, depending on which parent the aberration is inherited from. We describe to our knowledge the smallest familial pure 1.3-Mb duplication in chromosomal region 11p15.5p15.4 that involves both ICRs and is present in 3 generations causing an SRS or BWS phenotype.
authors.affiliation: Department of Genetics, Tartu University Hospital, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Mari-Anne
authors.initials: MA
authors.lastname: Vals
authors.affiliation: Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Tiina
authors.initials: T
authors.lastname: Kahre
authors.affiliation: United Laboratories, Tartu University Hospital, Tartu, Estonia.
authors.forename: Pille
authors.initials: P
authors.lastname: Mee
authors.affiliation: Department of Genetics, Tartu University Hospital, Tartu, Estonia.
authors.forename: Kai
authors.initials: K
authors.lastname: Muru
authors.affiliation: Children's Clinic, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Eha
authors.initials: E
authors.lastname: Kallas
authors.affiliation: Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Olga
authors.initials: O
authors.lastname: Žilina
authors.affiliation: Children's Clinic, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Vallo
authors.initials: V
authors.lastname: Tillmann
authors.affiliation: Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Katrin
authors.initials: K
authors.lastname: Õunap
keywords: 11p15 duplication; 11p15 imprinting disorders; Beckwith-Wiedemann syndrome; Imprinting control region 1; Imprinting control region 2; Silver-Russell syndrome