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 recesive disorder due to an X autosome translocation.
CITATION STYLE
Ohba, N., & Yamashita, T. (1986). Primary vitreoretinal dysplasia resembling Norrie’s disease in a female: Association with X autosome chromosomal translocation. British Journal of Ophthalmology, 70(1), 64–71. https://doi.org/10.1136/bjo.70.1.64
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