Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman

BACKGROUND: The 18p terminal deletion with inverted duplication is an extremely rare chromosome structure abnormality and the common clinical manifestations include intellectual disability and speech delay, etc. Up to now, only three confirmed cases were reported in Europe, and here, for the first t...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Zhu, Jianjiang, Qi, Hong, Cao, Sha, Cai, Lirong, Wen, Xiaohui, Tang, Guodong, Wan, Qian, Chen, Chen, Wang, Juan, Zeng, Wen, Luo, Yao
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732341/
https://ncbi.nlm.nih.gov/pubmed/31317671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.868
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