title: [Norrie syndrome: identification of carriers by segregation analysis with flanking DNA markers].
abstract: Norrie disease is an X-linked recessive disorder. Affected males present with congenital blindness. Additionally, hearing loss and psychotic behavior may occur at any time. Since carriers are clinically healthy, they can only be identified by genetic means. Daughters of carriers or sisters of affected males have an à priori 50% risk of being carriers themselves. Close linkage has been found between the Norrie disease locus (NDP) and the DNA locus DXS7 mapped to Xp11.3. For genetic counselling, this linkage relationship allows carriers of the disease to be identified in informative families. We describe a large pedigree with Norrie disease. Segregation analysis was carried out with DXS7 and a second flanking marker, DXS255, both linked to NDP. In this way, three females at risk were identified who had a high probability of being carriers for Norrie disease.
authors.forename: J
authors.initials: J
authors.lastname: Körner
authors.forename: S
authors.initials: S
authors.lastname: Uhlhaas
authors.forename: M
authors.initials: M
authors.lastname: Neugebauer
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000328:Adult; D001766:Blindness / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012163:Retinal Detachment / Q000235:genetics*; D012166:Retinal Hemorrhage / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA
vernacular_title: Norrie-Syndrom: Erkennung von Uberträgerinnen durch Segregationsanalyse mit flankierenden DNA-Markern.