title: Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization.
abstract: A case is presented in which chorionic villus direct preparation and cultured chorionic villus cells revealed a 47,XX+mar karyotype. The marker was a small metacentric chromosome and appeared to be i(18p)--isochromosome 18p. Follow-up studies in both amniotic fluid and fetal fibroblasts confirmed the karyotype. In order to characterize the marker, a panel of biotinylated DNA probes was used, including a whole chromosome 18 probe, chromosome 18-specific alpha satellite DNA, Yac clones, and a pan-telomeric probe. These studies show that the marker is a monocentric i(18p) in which about 80 per cent of chromosome 18 alpha satellite DNA has been lost.
authors.affiliation: Department of Laboratory Medicine, University of California, San Francisco.
authors.forename: L C
authors.initials: LC
authors.lastname: Yu
authors.forename: J
authors.initials: J
authors.lastname: Williams
authors.forename: B B
authors.initials: BB
authors.lastname: Wang
authors.forename: M
authors.initials: M
authors.lastname: Vooijs
authors.forename: H U
authors.initials: HU
authors.lastname: Weier
authors.forename: M
authors.initials: M
authors.lastname: Sakamoto
authors.forename: K L
authors.initials: KL
authors.lastname: Ying
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling / Q000379:methods*; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005456:Fluorescent Dyes; D006801:Humans; D017403:In Situ Hybridization; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005456:Fluorescent Dyes