De novo partial trisomy 15q (proximal type). |
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Authors: | T J Herweijer J W Oorthuys N J Leschot |
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Affiliation: | Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands. |
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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. |
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