Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Abstract

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.

• Authors: D Donnai, R C Mountford, A P Read
• Journal: Journal of medical genetics (J Med Genet) Vol. 25 Issue 2 Pg. 73-8 (Feb 1988) ISSN: 0022-2593 [Print] England
• PMID: 3162283 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers

Topics

• Abnormalities, Multiple (genetics)
• Autoradiography
• Blindness (genetics)
• Child, Preschool
• Chromosome Deletion
• Genetic Linkage
• Genetic Markers
• Humans
• Infant
• Intellectual Disability (genetics)
• Male
• Muscular Atrophy (genetics)
• Pedigree
• Syndrome
• X Chromosome (ultrastructure)