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De novo partial trisomy 15q (proximal type)
T J Herweijer1, J W Oorthuys, N J Leschot
1Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands.
Journal of Medical Genetics
|April 1, 1988
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.