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De novo partial trisomy 15q (proximal type).
Authors:T J Herweijer   J W Oorthuys     N J Leschot
Affiliation:Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands.
Abstract:This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.
Keywords:
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