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

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

de la Chapelle A, Sankila EM, Lindlöf M, Aula P, Norio R.

Abstract

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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