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Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplicati...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654821/ https://www.ncbi.nlm.nih.gov/pubmed/26594242 http://dx.doi.org/10.1186/s13039-015-0195-7 |