title: Molecular diagnosis of trisomy 18 using DNA recovered from paraffin embedded tissues and possible implications for genetic counselling.
abstract: Severe malformations pointing to trisomy 18 were observed in two fetuses. No chromosome analysis had been performed. To confirm the diagnosis of trisomy 18, DNA was isolated from formalin fixed and paraffin embedded tissues. Molecular analysis by typing chromosome 18-specific (CA)n-repeats unequivocally showed the presence of trisomy 18 in both cases.
authors.affiliation: Institut für Humangenetik, Universität Bonn, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Eggermann
authors.forename: M M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: P
authors.initials: P
authors.lastname: Propping
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
mesh_terms: D002887:Chromosomes, Human, Pair 18; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D016612:Paraffin Embedding; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D014314:Trisomy