title: Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.
abstract: We report on a 4-generation family in which Norrie disease occurs together with a pericentric inversion of the X chromosome in all affected males and carrier females. The breakpoint in the short arm of the X chromosome appears to be at the purported location of the Norrie disease gene. This is the second report of an association between Norrie disease and a chromosome aberration involving Xp11, and the first report of a specific gene disruption, thus physical gene location, due to a pericentric chromosome inversion.
authors.affiliation: Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27157.
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
authors.forename: P N
authors.initials: PN
authors.lastname: Rao
authors.forename: R G
authors.initials: RG
authors.lastname: Weaver
authors.forename: I T
authors.initials: IT
authors.lastname: Thomas
authors.forename: M R
authors.initials: MR
authors.lastname: McMahan
mesh_terms: D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D015792:Retinal Dysplasia / Q000235:genetics*; D014960:X Chromosome