Prenatal exclusion of Norrie's disease.

Redmond, R M; Graham, C A; Kelly, E D; Coleman, M; Nevin, N C · Br J Ophthalmol · 1992

Level V

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Abstract

We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.

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