Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

BACKGROUND: Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported. CASE PRESENTATION: Here we reported a case of concomita...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Cytogenet
Main Authors: Zhang, Shujie, Qin, Haisong, Wang, Jin, OuYang, Luping, Luo, Shiyu, Fu, Chunyun, Fan, Xin, Su, Jiasun, Chen, Rongyu, Xie, Bobo, Hu, Xuyun, Chen, Shaoke, Shen, Yiping
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4995659/
https://ncbi.nlm.nih.gov/pubmed/27559361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0274-4
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