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Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndrome...

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Detalles Bibliográficos
Autores principales:	Li, Suping, Jin, Yuxia, Yang, Jing, Yang, Li, Tang, Ping, Zhou, Chiyan, Wu, Liping, Dong, Jinhua, Chen, Jie, Shen, Huaxiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346507/ https://www.ncbi.nlm.nih.gov/pubmed/32670410 http://dx.doi.org/10.1186/s13039-020-00498-y

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