title: Carrier detection and prenatal diagnosis in Norrie disease.
abstract: We report the use of DNA probes to determine carrier status in three young women from a large kindred with Norrie disease. One of the women requested prenatal diagnosis during pregnancy. In this pedigree, Norrie disease was not characterized by a deletion at DXS7.
authors.affiliation: Sub-department of Medical Genetics, University of Sheffield, U.K.
authors.forename: D
authors.initials: D
authors.lastname: Curtis
authors.forename: C E
authors.initials: CE
authors.lastname: Blank
authors.forename: M A
authors.initials: MA
authors.lastname: Parsons
authors.forename: H N
authors.initials: HN
authors.lastname: Hughes
mesh_terms: D001766:Blindness / Q000235:genetics*; D002872:Chromosome Deletion; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008126:Lod Score; D001523:Mental Disorders / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: D015342:DNA Probes