Unusual phenotype in partial trisomy 14
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Lemire, Edmond G.; Cardwell, Sharon
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Article
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1999
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John Wiley and Sons
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English
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An 8-year-old boy with partial trisomy 14q and phenotype distinct from previously reported cases is described. The mother carries a balanced 9;14 reciprocal translocation. The patient presented with minor facial anomalies, developmental delay, hyperphagia, and obesity. Imprinting of maternal chromos