Partial trisomy 6q and bilateral retinal detachment.
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.
D002648:Child; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D007621:Karyotyping; D008297:Male; D012162:Retinal Degeneration / Q000235:genetics; D012163:Retinal Detachment / Q000235:genetics*; D012167:Retinal Perforations / Q000235:genetics; D012591:Scleral Buckling; D014314:Trisomy