title: Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.
abstract: A female infant with the typical clinical and histopathological features of vitreoretinal dysplasia is described. She had an apparently balanced reciprocal chromosomal translocation 46XX,t(X;10) with the X chromosome breakpoint being on the short arm. Since the parents' karyotypes were normal, it is most plausible that a de novo chromosomal translocation disrupted the vitreoretinal dysplasia gene itself. The severe clinical symptoms of this heterozygous female patient were explained by non-random X inactivation. She may have had Norrie's disease, an X linked recessive disorder due to an X autosome translocation.
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D012160:Retina / Q000002:abnormalities*; D012163:Retinal Detachment / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics / Q000473:pathology*; D014178:Translocation, Genetic; D014822:Vitreous Body / Q000002:abnormalities*; D014960:X Chromosome