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The first case of a patient with de novo partial distal 16q tetrasomy and a data's review |
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| Authors: | Marzena Kucharczyk Andrzej Kochański Aleksandra Jezela‐Stanek Monika Kugaudo Danuta Sielska‐Rotblum Anna Gutkowska Małgorzata Krajewska‐Walasek |
| Affiliation: | 1. Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland;2. Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland;3. Department of Child and Adolescent Psychiatry, Medical University of Warsaw, Warsaw, Poland |
| Abstract: | |
| Keywords: | complex genomic rearrangement 16q24.1‐q24.3 duplication‐triplication pattern partial distal 16q trisomy/tetrasomy intellectual disability dysmorphic features congenital malformations |