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de Novo Unbalanced Translocation (4p duplication/8p deletion) in a Patient with Autism, OCD, and Overgrowth Syndrome
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al., 2011]. Many chromosomal abnormalities, including submicroscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragi...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5444998/ https://ncbi.nlm.nih.gov/pubmed/28407363 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38171 |
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