title: Clinical findings in a patient mosaic for a supernumerary ring chromosome 20.
abstract: Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these findings to others reported in the literature.
authors.affiliation: Servicio de Genética, Departamento de Medicina, Hospital Clínico Universidad de Chile, Santiago, Chile. Austin_Ward@yahoo.com
authors.forename: E D
authors.initials: ED
authors.lastname: Austin-Ward
authors.forename: S
authors.initials: S
authors.lastname: Castillo
authors.forename: Y
authors.initials: Y
authors.lastname: Dragnic
authors.forename: P
authors.initials: P
authors.lastname: Sanz
authors.forename: S
authors.initials: S
authors.lastname: Salazar
authors.forename: J H
authors.initials: JH
authors.lastname: Knoll
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001034:Apgar Score; D002675:Child, Preschool; D002871:Chromosome Banding; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D012303:Ring Chromosomes