Prenatal diagnosis of choroideremia.
With the mapping of the locus CHM for choroideremia and the subsequent cloning of the gene, reliable carrier and prenatal diagnosis has become a possibility. We discuss our experience with prenatal diagnosis of choroideremia, an X-linked choroidoretinal dystrophy leading to blindness in otherwise healthy males. In the period 1987-1995, five prenatal diagnoses have been performed by either indirect linkage analysis or by detection of the disease-causing mutation, reflecting the impact of molecular biology in clinical genetic practice.
Schwartz
M
M
Department of Clinical Genetics, University Hospital, Rigshospitalet, Hellerup, Copenhagen, Denmark.
Rosenberg
T
T
D000328:Adult; D001483:Base Sequence; D015794:Choroideremia / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014960:X Chromosome / Q000235:genetics
D004247:DNA