title: Prenatal UPD testing survey in Robertsonian translocations.
abstract: A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out of 23 analysed cases. The results presented here, combined with other available data, provide preliminary elements for genetic counselling in these common chromosomal rearrangements.
authors.affiliation: Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Università di Ferrara, Italy. gdf@dns.unife.it
authors.forename: F
authors.initials: F
authors.lastname: Gualandi
authors.forename: A
authors.initials: A
authors.lastname: Sensi
authors.forename: C
authors.initials: C
authors.lastname: Trabanelli
authors.forename: F
authors.initials: F
authors.lastname: Falciano
authors.forename: A
authors.initials: A
authors.lastname: Bonfatti
authors.forename: E
authors.initials: E
authors.lastname: Calzolari
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry; D002824:Chorionic Villi / Q000737:chemistry; D004247:DNA / Q000032:analysis; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005817:Genetic Counseling; D006801:Humans; D010290:Parents; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic
chemical_list: D004247:DNA