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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...

詳細記述

書誌詳細
主要な著者: Cai, Meiying, Lin, Na, Su, Linjuan, Wu, Xiaoqing, Xie, Xiaorui, Li, Ying, Lin, Yuan, Huang, Hailong, Xu, Liangpu
フォーマット: Online 論文 テキスト
言語:English
出版事項: Springer Netherlands 2020
主題:
オンライン・アクセス: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