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

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

Abstract 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...

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Bibliographic Details
Main Authors:	Jianjiang Zhu, Hong Qi, Sha Cao, Lirong Cai, Xiaohui Wen, Guodong Tang, Qian Wan, Chen Chen, Juan Wang, Wen Zeng, Yao Luo
Format:	Article
Language:	English
Published:	Wiley 2019-09-01
Series:	Molecular Genetics & Genomic Medicine
Subjects:	18p chromosome recombinant inverted duplication and terminal deletion NIPT
Online Access:	https://doi.org/10.1002/mgg3.868

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