title: De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting.
abstract: This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that the marker chromosome consisted of chromosome 18 material in both cases.
authors.affiliation: Institut für Humangenetik und Anthropologie der Universität, Freiburg, FRG.
authors.forename: E
authors.initials: E
authors.lastname: Back
authors.forename: R
authors.initials: R
authors.lastname: Toder
authors.forename: I
authors.initials: I
authors.lastname: Voiculescu
authors.forename: A
authors.initials: A
authors.lastname: Wildberg
authors.forename: W
authors.initials: W
authors.lastname: Schempp
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D018404:Isochromosomes; D008297:Male