Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome

Several recurrent microdeletions and microduplications in the proximal, central, and distal regions of chromosomal 22q11.2 have been identified. However, due to a limited number of patients reported in the literature, highly variable clinical phenotypes, and incomplete penetrance, the pathogenicity...

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Bibliographic Details
Main Authors: Shuyuan Li, Xu Han, Mujin Ye, Songchang Chen, Yinghua Shen, Jianmei Niu, Yanlin Wang, Chenming Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-08-01
Series:Frontiers in Genetics
Subjects:
22q11.2
microdeletions
microduplications
prenatal diagnosis
genetic counseling
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00813/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00813/full

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