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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...
Autores principales: | Carvalheira, Gianna, Oliveira, Mariana Moysés, Takeno, Sylvia, Lima, Fernanda Teresa de, Meloni, Vera Ayres, Melaragno, Maria Isabel |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288793/ https://www.ncbi.nlm.nih.gov/pubmed/25606462 http://dx.doi.org/10.1016/j.mgene.2014.09.004 |
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