Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array

The q11.2 region on chromosome 22 contains numerous low-copy repeats that lead to deleted or duplicated regions in the chromosome, thereby resulting in different syndromes characterized by intellectual disabilities or congenital anomalies. The association between patient phenotypes and 22q11.2 copy...

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Detalles Bibliográficos
Autores principales: Cai, Meiying, Lin, Na, Su, Linjuan, Wu, Xiaoqing, Xie, Xiaorui, Li, Ying, Lin, Yuan, Huang, Hailong, Xu, Liangpu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7588391/
https://www.ncbi.nlm.nih.gov/pubmed/32935260
http://dx.doi.org/10.1007/s11033-020-05815-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7588391/
https://www.ncbi.nlm.nih.gov/pubmed/32935260
http://dx.doi.org/10.1007/s11033-020-05815-7

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