Objectives: To characterize the clinical and genetic features of Phelan–McDermid syndrome (PMS) in a Chinese prenatal and postnatal cohort, explore genotype–phenotype correlations, and provide evidence to support prenatal genetic counseling. Methods: G-banded karyotyping, single-nucleotide polymorphism arrays (SNP arra...
Hui-Li Xue, Yi-Fang Dai, Xiang-Lan Ye et al.· Journal of Clinical Medicine· 0 citations
Copy number variation (CNV) is defined as a > 1-kb-long DNA fragment copy number increase or decrease, with fetal CNV judgment and genetic counseling posing difficulties. We tested and retrospectively analyzed fetuses using chromosomal microarray analysis (CMA), 169 with abnormal CNV being completely verified and f...
Meiying Cai, Wen-Qi Chen, Mei-Mei Fu et al.· Scientific Reports· 0 citations
Objective To investigate the genetic factors associated with fetal single umbilical artery (SUA) and concomitant structural anomalies. Methods A retrospective review was performed on the ultrasound characteristics of 375 SUA fetuses diagnosed by color Doppler ultrasound at Fujian Provincial Maternity and Children’s Hos...
Yuqing Chen, Xiao-Qing Wu, Meiying Cai et al.· Genetics Research· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.