Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases. They are associated with variable phenotypes, ranging from normal to severely abnormal, and the...

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Detalles Bibliográficos
Autores principales: Kleinfinger, Pascale, Brechard, Marie, Luscan, Armelle, Trost, Detlef, Boughalem, Aicha, Mylene Valduga, Serero DR, Stéphane, Costa, Jean-Marc, Lohmann, Laurence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549001/
https://www.ncbi.nlm.nih.gov/pubmed/36226188
http://dx.doi.org/10.3389/fgene.2022.926290

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549001/
https://www.ncbi.nlm.nih.gov/pubmed/36226188
http://dx.doi.org/10.3389/fgene.2022.926290

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