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Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

We report a case of a neonate who was shown with routine chromosome analysis on peripheral blood lymphocytes to have full monosomy 21. Further investigation on fibroblast cells using conventional chromosome and FISH analysis revealed two additional mosaic cell lines; one is containing a ring chromos...

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Detalles Bibliográficos
Autores principales: Burgess, Trent, Downie, Lilian, Pertile, Mark D., Francis, David, Glass, Melissa, Nouri, Sara, Pszczola, Rosalynn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932290/
https://www.ncbi.nlm.nih.gov/pubmed/24649383
http://dx.doi.org/10.1155/2014/965401