title: Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem.
abstract: A prenatal diagnosis of adult polycystic kidney disease by DNA testing is reported. Evidence showing a linkage between the disease and the 3'HVR and 24.1 restriction fragment length polymorphisms (RFLPs) on chromosome 16 was obtained in the proband's family by linkage analysis of data and homogeneity testing with Italian families of the linked type. Fetal genotype prediction based on both flanking markers was confirmed by histological and ultrastructural findings in fetal kidneys.
authors.affiliation: Chair of Genetics, University of Urbino, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: M
authors.initials: M
authors.lastname: Frontali
authors.forename: D
authors.initials: D
authors.lastname: Baldini
authors.forename: C
authors.initials: C
authors.lastname: Bosman
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: A
authors.initials: A
authors.lastname: Pachì
authors.forename: F
authors.initials: F
authors.lastname: Torcia
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002885:Chromosomes, Human, Pair 16; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes; D005819:Genetic Markers