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Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

BACKGROUND: Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and improvements in data analysis algorithms, th...

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Detalles Bibliográficos
Autores principales: Ali, Taccyanna M., Mateu-Brull, Emilia, Balaguer, Nuria, Dantas, Camila, Borges, Haline Risso, de Oliveira, Mariana Quintans Guerra, Rodrigo, Lorena, Campos-Galindo, Inmaculada, Navarro, Roser, Milán, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243479/
https://www.ncbi.nlm.nih.gov/pubmed/34187576
http://dx.doi.org/10.1186/s40001-021-00535-5