Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27).
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.
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D004596:Electroretinography; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008268:Macular Degeneration / Q000235:genetics; D008297:Male; D010786:Photoreceptor Cells / Q000503:physiopathology*; D012162:Retinal Degeneration / Q000235:genetics*; D014178:Translocation, Genetic