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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Bibliografiske detaljer
Udgivet i:Springerplus
Main Authors: Iourov, Ivan Y., Vorsanova, Svetlana G., Demidova, Irina A., Aliamovskaia, Galina A., Keshishian, Elena S., Yurov, Yuri B.
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2015
Fag:
Case Study
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4628017/
https://ncbi.nlm.nih.gov/pubmed/26543751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40064-015-1399-3
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