title: Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS.
abstract: Prenatal cytogenetic analysis at 11 weeks of gestation revealed an abnormal karyotype 47,XX,+mar in all metaphases obtained from a chorionic villi sample after 24 h culture. Karyotyping of amniotic fluid cells in the second trimester showed mosaicism 47,XX,+i(12p)/46,XX with 10% aneuploid cells. The pregnancy was terminated at 20 weeks of gestation on the patient's request. The aborted fetus showed typical manifestations of the Pallister-Killian mosaic aneuploidy syndrome. The identity of the supernumerary isochromosome 12p was proven by LDH isozyme electrophoresis using cultured fibroblasts and by nonradioactive in situ hybridization using a biotinylated set of chromosome 12-specific DNA probes.
authors.affiliation: Institut für Humangenetik, Universität Göttingen, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Bernert
authors.forename: I
authors.initials: I
authors.lastname: Bartels
authors.forename: G
authors.initials: G
authors.lastname: Gatz
authors.forename: I
authors.initials: I
authors.lastname: Hansmann
authors.forename: M
authors.initials: M
authors.lastname: Heyat
authors.forename: P D
authors.initials: PD
authors.lastname: Niedmann
authors.forename: H
authors.initials: H
authors.lastname: Rehder
authors.forename: C
authors.initials: C
authors.lastname: Waldenmaier
authors.forename: B
authors.initials: B
authors.lastname: Zoll
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005819:Genetic Markers / Q000235:genetics; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome
chemical_list: D005819:Genetic Markers