title: Fetal translocation between chromosomes 2, 18, and 21 resolved by fish.
abstract: An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.
authors.affiliation: Laboratorio Centrale CRI, Roma, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Delaroche
authors.forename: M
authors.initials: M
authors.lastname: Sabani
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: G
authors.initials: G
authors.lastname: Palka
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000328:Adult; D002887:Chromosomes, Human, Pair 18; D002889:Chromosomes, Human, Pair 2; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal