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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Li, Shuyuan, Han, Xu, Ye, Mujin, Chen, Songchang, Shen, Yinghua, Niu, Jianmei, Wang, Yanlin, Xu, Chenming
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6728414/
https://ncbi.nlm.nih.gov/pubmed/31543904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00813
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