title: Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18.
abstract: We report a patient with a de novo translocation 13/18, identified by high-resolution banding. The breakpoints were ascertained by fluorescence in situ hybridisation with whole chromosome 13 and 18 paints. Short tandem repeat typing demonstrated the aberration to be of combined maternal/paternal origin and thereby confirmed its de novo and postzygotic formation. Thus, a gonadal mosaic in one of the parents resulting in a higher recurrence risk could be excluded.
authors.affiliation: Abteilung für Klinische Genetik, Institut fúr Anthropologie und Humangenetik der Universität Tübingen, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Eggermann
authors.forename: H
authors.initials: H
authors.lastname: Engels
authors.forename: C
authors.initials: C
authors.lastname: Heidrich-Kaul
authors.forename: I
authors.initials: I
authors.lastname: Moderau
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002843:Chromatin; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D022041:Euchromatin; D005260:Female; D006801:Humans; D009006:Monosomy; D009693:Nucleic Acid Hybridization; D014178:Translocation, Genetic; D014314:Trisomy
chemical_list: D002843:Chromatin; D022041:Euchromatin