Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis

Clin Genet. 1985 Oct;28(4):317-20. doi: 10.1111/j.1399-0004.1985.tb00405.x.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blindness / congenital*
  • Blindness / diagnosis
  • Blindness / genetics
  • Chromosome Aberrations / diagnosis*
  • Chromosome Deletion
  • Chromosome Disorders
  • Cloning, Molecular
  • DNA Restriction Enzymes
  • Female
  • Genetic Carrier Screening
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis


  • DNA Restriction Enzymes