Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.
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.
Pettenati
M J
MJ
Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27157.
Rao
P N
PN
Weaver
R G
RG
Thomas
I T
IT
McMahan
M R
MR
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