title: Direct tandem duplication in chromosome 19q characterized by array CGH.
abstract: Partial trisomy of the long arm of chromosome 19 is a rare aneusomy. Only six cases of pure duplications have been previously reported, two of which were prenatally detected. Here we describe the clinical manifestations in a 15-month-old girl with a de novo dup(19)(q12q13.2) and the application of array-based comparative genomic hybridization with a resolution of approximately 1 Mb to characterize the duplicated segment. Seven clones were found duplicated, and the size of the fragment was determined to be 10.8 Mb. The scarce number of patients reported and the difficulty of accurately defining the duplicated segment when conventional cytogenetic methods are applied hamper the delineation of a clinical phenotype for duplication of chromosome 19q. To our knowledge this is the fifth live born reported with a pure dup(19), and the first report in which the duplicated segment has been accurately characterized by means of array CGH.
authors.affiliation: Sección de Genética Médica, Hospital Universitario La Paz, Madrid, Spain. mpalomares.hulp@salud.madrid.org <mpalomares.hulp@salud.madrid.org>
authors.forename: Maria
authors.initials: M
authors.lastname: Palomares Bralo
authors.forename: Alicia
authors.initials: A
authors.lastname: Delicado
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.forename: Ramón
authors.initials: R
authors.lastname: Velázquez Fragua
authors.forename: Olaya
authors.initials: O
authors.lastname: Villa
authors.forename: Maria
authors.initials: M
authors.lastname: Angeles Mori
authors.forename: Maria
authors.initials: M
authors.lastname: Luisa de Torres
authors.forename: Luis
authors.initials: L
authors.lastname: Fernández
authors.forename: Luis A
authors.initials: LA
authors.lastname: Pérez Jurado
authors.forename: Isidora
authors.initials: I
authors.lastname: López Pajares
mesh_terms: D002869:Chromosome Aberrations; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D007223:Infant; D009693:Nucleic Acid Hybridization