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PMID: 3162283 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Journal of medical genetics ·Vol. 25 ·No. 2 ·1988-02-00 ·Pages 73-8

Donnai D, Mountford RC, Read AP

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.

MeSH Terms
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
Chemicals
Genetic Markers
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Donnai D
Department of Medical Genetics, St Mary's Hospital, Manchester.
Mountford R C
Read A P
References (10)
10 references, click to expand
  1. A presumptive new variant of Norrie's disease.
    J Med Genet. 1979 Apr;16(2):125-8 PMID: 572429
  2. Norrie's disease (hereditary oculo-acoustic-cerebral degeneration). Report of a United States family.
    Am J Ophthalmol. 1973 Nov;76(5):797-803 PMID: 4201220
  3. Norrie's disease.
    Am J Ophthalmol. 1968 Aug;66(2):328-32 PMID: 5663370
  4. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.
    Anal Biochem. 1983 Jul 1;132(1):6-13 PMID: 6312838
  5. Further linkage data on Norrie disease.
    Am J Med Genet. 1987 Mar;26(3):733-6 PMID: 3565487
  6. Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.
    Cytogenet Cell Genet. 1986;42(4):219-24 PMID: 3502689
  7. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.
    Cytogenet Cell Genet. 1985;40(1-4):296-352 PMID: 3864598
  8. Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.
    Clin Genet. 1985 Oct;28(4):317-20 PMID: 2998655
  9. Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.
    Clin Genet. 1985 Mar;27(3):282-3 PMID: 3857130
  10. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.
    Am J Hum Genet. 1985 Mar;37(2):250-67 PMID: 4039107
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.25.2.73
Published
1988-02-00
Pages
73-8
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1015446
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.25.2.73 PMC Full Text View journal details
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