title: The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.
abstract: Tetrasomy 14q11q13 is a very rare chromosome aberration. So far, only five patients with such an imbalance were described. All these patients had a de novo marker chromosome idic(14)(q13) leading to a partial tetrasomy of chromosome 14. We report on the first case of a de novo non-mosaic partial tetrasomy 14q resulted not from a marker chromosome, but from an inverted triplication on paternal chromosome 14, characterized by using FISH and SNP array. Our patient showed some anomalies described in tetrasomy 14q11q13 with striking presence of paternal UPD(14) features (blepharophimosis, small thorax, and joint contractures, developmental delay). This unique patient supports the hypothesis that 14q11q13 may contain imprinted gene(s) that contribute to the paternal UPD(14) features of joint contractures and/or blepharophimosis. This patient demonstrates the utility of parent of origin testing in patients with de novo chromosome 14 aberrations. Overdosage of 14q11.1q13.1 may cause some features related to UPD(14) phenotype.
authors.affiliation: Prenatal Diagnostic and Genetic Clinic, Medical University of Silesia, Zabrze, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Tomaszewska
authors.affiliation: Department of Pediatrics, NICU, Medical University of Silesia, Zabrze, Poland.
authors.forename: Jakub
authors.initials: J
authors.lastname: Behrendt
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Marjan
authors.initials: M
authors.lastname: Boter
authors.affiliation: Prenatal Diagnostic and Genetic Clinic, Medical University of Silesia, Zabrze, Poland.
authors.forename: Angelika
authors.initials: A
authors.lastname: Wawrzkiewicz-Witkowska
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Marnix J
authors.initials: MJ
authors.lastname: Bos
authors.affiliation: Prenatal Diagnostic and Genetic Clinic, Medical University of Silesia, Zabrze, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Podbiol-Palenta
authors.affiliation: Department of Pediatrics, NICU, Medical University of Silesia, Zabrze, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Godula-Stuglik
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Robert-Jan H
authors.initials: RJ
authors.lastname: Galjaard
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Malgorzata I
authors.initials: MI
authors.lastname: Srebniak
mesh_terms: D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D018392:Genomic Imprinting; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D000072740:Paternal Inheritance; D058670:Tetrasomy / Q000235:genetics* / Q000473:pathology
keywords: 14q11.2q13.1 tetrasomy; 14q11.2q13.1 triplication; SNP array; UPD; imprinted gene; paternal origin