Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27)

Ophthalmic Paediatr Genet. 1986 Dec;7(3):167-73. doi: 10.3109/13816818609004134.


The authors describe a six-year-old boy with cone dystrophy, mental retardation, facial dysmorphism and short neck, hands and feet in whom they found a 1:6 chromosomal translocation. This is the first description of retinal cone dystrophy and a chromosomal aberration. The hypothesize that the cone dystrophy in the patient may be assigned to 1q44 or 6q27.

Publication types

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

MeSH terms

  • Child
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 6*
  • Electroretinography
  • Humans
  • Intellectual Disability / genetics*
  • Macular Degeneration / genetics
  • Male
  • Photoreceptor Cells / physiopathology*
  • Retinal Degeneration / genetics*
  • Translocation, Genetic*