5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy

Recent developments in molecular cytogenetics allow the detection of genomic rearrangements at an unprecedented level leading to discoveries of previously unknown chromosomal imbalances (zygotic and post-zygotic/mosaic). These can be accompanied by a different kind of pathological genome variations,...

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Detalles Bibliográficos
Autores principales: Iourov, Ivan Y., Vorsanova, Svetlana G., Demidova, Irina A., Aliamovskaia, Galina A., Keshishian, Elena S., Yurov, Yuri B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2015
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628017/
https://www.ncbi.nlm.nih.gov/pubmed/26543751
http://dx.doi.org/10.1186/s40064-015-1399-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628017/
https://www.ncbi.nlm.nih.gov/pubmed/26543751
http://dx.doi.org/10.1186/s40064-015-1399-3

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