title: Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.
abstract: San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. We report for the first time on a Moroccan girl with a recombinant chromosome 8 prenatally diagnosed as SLV Rec8 by conventional cytogenetic studies. At birth, an oligo array-CGH (105 K) defined the breakpoints and the size of the imbalanced segments, with a deletion of ≈ 2.27 Mb (8p23.2-pter) and a duplication of ≈ 41.93 Mb (8q22.3-qter); thus this recombinant chromosome 8 differed from that previously reported in SLV Rec8 syndrome. The phenotypic characteristics associated with this SLV Rec8 genotype overlap those commonly found in patients with 8q duplication reported in the literature. We review SLV Rec8 and other chromosome 8 aberrations and suggest that the overexpression of cardiogenic genes located at 8q may be the cause of the cardiac defects in this patient.
authors.affiliation: Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, El Palmar, Murcia, Spain.
authors.forename: Ascensión
authors.initials: A
authors.lastname: Vera-Carbonell
authors.forename: Vanesa
authors.initials: V
authors.lastname: López-González
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Bafalliu
authors.forename: Juan
authors.initials: J
authors.lastname: Piñero-Fernández
authors.forename: Joaquín
authors.initials: J
authors.lastname: Susmozas
authors.forename: Moisés
authors.initials: M
authors.lastname: Sorli
authors.forename: Rocío
authors.initials: R
authors.lastname: López-Pérez
authors.forename: Asunción
authors.initials: A
authors.lastname: Fernández
authors.forename: Encarna
authors.initials: E
authors.lastname: Guillén-Navarro
authors.forename: Isabel
authors.initials: I
authors.lastname: López-Expósito
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D058674:Chromosome Duplication; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011995:Recombination, Genetic
keywords: FISH analysis; SLV Rec8 syndrome; array-CGH analysis; pericentric inversion 8; recombinant chromosome 8