title: Pallister-Killian syndrome diagnosed by chorionic villus sampling.
abstract: The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.
authors.affiliation: Department of Genetics, St George's Hospital Medical School, Tooting, London, U.K.
authors.forename: M
authors.initials: M
authors.lastname: Sharland
authors.forename: L
authors.initials: L
authors.lastname: Hill
authors.forename: R
authors.initials: R
authors.lastname: Patel
authors.forename: M
authors.initials: M
authors.lastname: Patton
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D016216:Ultrasonography, Prenatal