We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q2·1→qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van-Creveld syndrome.
|Original language||English (US)|
|Number of pages||3|
|Journal||Journal of medical genetics|
|State||Published - Jan 1 1988|
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