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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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Cai, Meiying, Lin, Na, Su, Linjuan, Wu, Xiaoqing, Xie, Xiaorui, Li, Ying, Lin, Yuan, Huang, Hailong, Xu, Liangpu
Μορφή: Online Άρθρο Κείμενο
Γλώσσα:English
Έκδοση: Springer Netherlands 2020
Θέματα:
Διαθέσιμο Online: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