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22q13.32 Deletion and Duplication and Inversion in the Same Family: A Rare Occurrence
Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a rare occurrence of 22q13.3 duplic...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scholarly Research Network
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263574/ https://www.ncbi.nlm.nih.gov/pubmed/22389789 http://dx.doi.org/10.5402/2011/829825 |