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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...

תיאור מלא

מידע ביבליוגרפי
Autores principales: Cai, Meiying, Lin, Na, Su, Linjuan, Wu, Xiaoqing, Xie, Xiaorui, Li, Ying, Lin, Yuan, Huang, Hailong, Xu, Liangpu
פורמט: Online Artículo Texto
שפה:English
יצא לאור: Springer Netherlands 2020
נושאים:
גישה מקוונת: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