Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk.
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.
Iampieri
M P
MP
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.
Mingarelli
R
R
Le Guern
E
E
Novelli
G
G
Dallapiccola
B
B
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
D015342:DNA Probes