Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis |
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| Authors: | Albert de La, Chapelle ,Eeva-Marja, Sankila ,Mikael,Lindlö f ,Pertti,Aula Reuo,Norio |
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| Affiliation: | Department of Medical Genetics, University of Helsinki;Folkhälsan Institute of Genetics, Helsinki;Laboratory of Prenatal Genetics, Department of Obstetrics and Gynaecology, University of Helsinki;Department of Medical Genetics, Väestöliitto, Helsinki, Finland |
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| 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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| Keywords: | Deletion DNA DXS7 Norrie disease probe X-chromosome |
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