title: Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk.
abstract: Five pregnancies at risk for X-linked retinitis pigmentosa (RP) have been monitored by first-trimester prenatal diagnosis using DNA markers flanking the RP2 and RP3 loci. Three affected and two unaffected fetuses, including a female carrying a wild-type genotype, were predicted on the basis of marker segregation and estimation of the recombination fraction.
authors.affiliation: Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.
authors.forename: M P
authors.initials: MP
authors.lastname: Iampieri
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: E
authors.initials: E
authors.lastname: Le Guern
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015342:DNA Probes