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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding
This case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to dysmorphic features at birth. This testing revealed a diagnosis of an unbalanced 7;9 translocation resulting in monosomy for 7q34-qter and...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130017/ https://www.ncbi.nlm.nih.gov/pubmed/35620252 http://dx.doi.org/10.1155/2022/7510079 |