Partial trisomy 6q and bilateral retinal detachment

M. E M Pierpont, K. G. Maccarthy, W. H. Knobloch

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)175-180
Number of pages6
JournalOphthalmic Paediatrics and Genetics
Issue number3
StatePublished - 1986


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