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Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
BACKGROUND: Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. CASE PRESENTATION: Here we re...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310980/ https://www.ncbi.nlm.nih.gov/pubmed/30619508 http://dx.doi.org/10.1186/s13039-018-0410-4 |