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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...
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| Publicado no: | Mol Cytogenet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6310980/ https://ncbi.nlm.nih.gov/pubmed/30619508 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0410-4 |
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