title: Translocation trisomy 21 in CVS not found in embryoblast: three different cell lines in CVS, amnion- and placental culture.
abstract: Chorionic villus samples from a healthy pregnant female were obtained for first-trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY, +mar was found.
authors.affiliation: Institute für Klinische Genetik und Zytologie, Oberhausen, F.R.G.
authors.forename: B
authors.initials: B
authors.lastname: Eiben
authors.forename: S
authors.initials: S
authors.lastname: Hansen
authors.forename: J
authors.initials: J
authors.lastname: Knipping
authors.forename: R
authors.initials: R
authors.lastname: Massenberg
authors.forename: R
authors.initials: R
authors.lastname: Goebel
authors.forename: W
authors.initials: W
authors.lastname: Hammans
mesh_terms: D000328:Adult; D000650:Amnion / Q000166:cytology; D015193:Chorionic Villi Sampling; D002871:Chromosome Banding; D046508:Culture Techniques; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005189:False Positive Reactions; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D010920:Placenta / Q000648:ultrastructure; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic