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Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy
BACKGROUND: Rare copy number variations (CNVs) are today recognized as an important cause of various neurodevelopmental disorders, including mental retardation and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. RESULTS: Here we describe a patient with ep...
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| 發表在: | Mol Cytogenet |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4335438/ https://ncbi.nlm.nih.gov/pubmed/25705258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0115-x |
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