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Clin Genet. 1985 Oct;28(4):317-20.

Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.


Carrier determination and prenatal diagnosis in Norrie disease (ND) has so far not been reported. We describe a kindred with 4 members affected by ND in which a deletion comprising gene locus DXS7 on the short arm of the X chromosome defined by probe L1.28 causes the disorder. This allowed us to predict via chorion villus biopsy that a male foetus of a carrier woman is unaffected.

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