de novo interstitial deletions at the 11q23.3-q24.2 region

BACKGROUND: Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown. CASE PRESENTATION: We presented the chromosome microarray (CMA) data and the...

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Bibliografische gegevens
Gepubliceerd in:Mol Cytogenet
Hoofdauteurs: Su, Jiasun, Chen, Rongyu, Luo, Jingsi, Fan, Xin, Fu, Chunyun, Wang, Jin, He, Sheng, Hu, Xuyun, Zhang, ShuJie, Yi, Shang, Chen, Shaoke, Shen, Yiping
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2016
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4858824/
https://ncbi.nlm.nih.gov/pubmed/27158264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0247-7
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