title: First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.
abstract: We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at 22 weeks of gestation and by clinical evaluation at birth.
authors.affiliation: Dipartimento di Sanità Pubblica e Biologia Cellulare, Università di Roma Tor Vergata, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Torrente
authors.forename: M
authors.initials: M
authors.lastname: Mangino
authors.forename: A
authors.initials: A
authors.lastname: De Luca
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: M
authors.initials: M
authors.lastname: Gennarelli
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000328:Adult; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005865:Gestational Age; D006579:Heterozygote; D006801:Humans; D018895:Microsatellite Repeats; D010375:Pedigree; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
chemical_list: D005819:Genetic Markers