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

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

Abstract 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 algori...

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Bibliographic Details
Main Authors: Taccyanna M. Ali, Emilia Mateu-Brull, Nuria Balaguer, Camila Dantas, Haline Risso Borges, Mariana Quintans Guerra de Oliveira, Lorena Rodrigo, Inmaculada Campos-Galindo, Roser Navarro, Miguel Milán
Format: Article
Language:English
Published: BMC 2021-06-01
Series:European Journal of Medical Research
Subjects:
Cell-free DNA
Copy number variations
Reciprocal translocation
Online Access:https://doi.org/10.1186/s40001-021-00535-5

Internet

https://doi.org/10.1186/s40001-021-00535-5

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