Article
Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis.
Human genomics - 1 Dec 2022
Hu Rong, Huang Weiwei, Zhou Weining, Luo Xiaohui, Ren Congmian, Huang Huajie, Hou Yaping, Guo Li, He Wei, Lu Jian
Abstract excerpt
BACKGROUND: Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between phenotypic findings and rare autosomal aneuploidies (RAAs). We conducted a retrospective study of 48,904 cases for chromosomal microarray analysis in a large tertiary referral...
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