Cargando…
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...
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 |
Ejemplares similares
-
A case of monosomy 21 presented with difficult tracheal intubation
por: Saito, Yoshiki, et al.
Publicado: (2022) -
Monosomy 18p
por: Turleau, Catherine
Publicado: (2008) -
Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
por: Hashemi, A, et al.
Publicado: (2014) -
Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature
por: Vorsanova, Svetlana G, et al.
Publicado: (2008) -
Deletion of the App-Runx1 region in mice models human partial monosomy 21
por: Arbogast, Thomas, et al.
Publicado: (2015)