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De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
BACKGROUND: Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the mechanism of triplications that are not embedded within duplications and potent...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626894/ https://www.ncbi.nlm.nih.gov/pubmed/23552394 http://dx.doi.org/10.1186/1755-8166-6-15 |