title: Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomic zygote rescue.
abstract: We present a prenatal predictive diagnosis of Prader-Willi syndrome arising as a result of maternal heterodisomy for chromosome 15. The diagnosis arose following chorionic villus sampling which showed a mosaic trisomy 15 karyotype with a chromosomally normal follow-up amninocentesis. Molecular studies on DNA extracted from cultured amniocytes showed no evidence of a paternal allele at two widely separated loci and this was taken as evidence of maternal disomy predictive of Prader-Willi syndrome in the fetus.
authors.affiliation: Regional Genetics Laboratories, Birmingham Women's Hospital, Edgbaston, U.K.
authors.forename: E
authors.initials: E
authors.lastname: Roberts
authors.forename: K
authors.initials: K
authors.lastname: Stevenson
authors.forename: T
authors.initials: T
authors.lastname: Cole
authors.forename: D H
authors.initials: DH
authors.lastname: Redford
authors.forename: E V
authors.initials: EV
authors.lastname: Davison
mesh_terms: D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000032:analysis; D005260:Female; D005865:Gestational Age; D006801:Humans; D009030:Mosaicism; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D014314:Trisomy
chemical_list: D004247:DNA