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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...
Autores principales: | Kleinfinger, Pascale, Brechard, Marie, Luscan, Armelle, Trost, Detlef, Boughalem, Aicha, Mylene Valduga, Serero DR, Stéphane, Costa, Jean-Marc, Lohmann, Laurence |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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