Norrie disease resulting from a gene deletion: clinical features and DNA studies.
We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.
Donnai
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Department of Medical Genetics, St Mary's Hospital, Manchester.
Mountford
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RC
Read
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AP
D000015:Abnormalities, Multiple / Q000235:genetics*; D001345:Autoradiography; D001766:Blindness / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000648:ultrastructure*
D005819:Genetic Markers