Partial trisomy 6q and bilateral retinal detachment

Mary Ella M. Pierpont Genetics Eye Clinic, Departments of Ophthalmology, University of Minnesota, Box 493, Mayo, Minneapolis, MN, 55455, USA; Departments of Pediatrics, University of Minnesota, Box 493 Mayo, Minneapolis, MN, 55455, USA

Kathleen G. Maccarthy Departments of Pediatrics, University of Minnesota, Box 493 Mayo, Minneapolis, MN, 55455, USA

William H. Knobloch Genetics Eye Clinic, Departments of Ophthalmology, University of Minnesota, Box 493, Mayo, Minneapolis, MN, 55455, USA

Abstract

An eight-year-old boy with trisomy 6q13 → q21 is described with growth retardation, severe mental retardation, unusual facies, cleft palate, joint contractures and bilateral retinal detachment. To the authors’ knowledge, this is the first case in which such an association has been recorded.

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Partial trisomy 6q and bilateral retinal detachment

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Partial trisomy 6q and bilateral retinal detachment

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