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Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature |
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| Authors: | Perrin Yannick Addor Marie-Claude Sekarski Nicole Gaide Anne-Claude Schorderet Daniel F |
| Affiliation: | Department of Medical Genetics, CHUV, Lausanne, Switzerland. |
| Abstract: | A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter. |
| Keywords: | Trisomy 14 syndrome Aorto-pulmonary window Review |
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