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19q13.33→qter trisomy in a girl with intellectual impairment and seizures
Rearrangements in chromosome 19 are rare. Among the 35 patients with partial 19q trisomy described, only six have a breakpoint defined by array. The 19q duplication results in a variable phenotype, including dysmorphisms, intellectual disability and seizure. In a female patient, although G-banding a...
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| Publicado no: | Meta Gene |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4288793/ https://ncbi.nlm.nih.gov/pubmed/25606462 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2014.09.004 |
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