Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis
- 1 October 1985
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 28 (4), 317-320
- https://doi.org/10.1111/j.1399-0004.1985.tb00405.x
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.Keywords
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