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Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism
We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The i...
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| 發表在: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Wiley-Blackwell
2010
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4906125/ https://ncbi.nlm.nih.gov/pubmed/20684015 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33601 |
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