Abstract
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
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Child
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Chromosomes, Human, Pair 1*
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Chromosomes, Human, Pair 6*
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Electroretinography
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Humans
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Intellectual Disability / genetics*
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Macular Degeneration / genetics
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Male
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Photoreceptor Cells / physiopathology*
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Retinal Degeneration / genetics*
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Translocation, Genetic*