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Updated: Dec 9, 2025

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
[Genetic analysis of a 45,X male fetus]
Yan Zeng1, Dehua Cheng, Jian Zhao
1Center for Prenatal Diagnosis, Shaoxing Women and Children's Health Care Hospital, Zhejiang 312000, China. 2560336019@qq.com.
Objective:
To analyze the prenatal diagnosis procedure for a 45,X male fetus.
Methods:
A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21. The fetal cells were subjected to chromosomal karyotyping, BACs-on-BeadsTM (BoBs) assay, chromosomal microarray analysis and fluorescence in situ hybridization.
Results:
Combined analyses revealed that the whole of Yp has translocated to 21p, which yielded a fetal karyotype of 45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+).
Conclusion:
BoBs and modified N-banding method are helpful for the diagnosis of 45,X male fetus with Yp translocation.
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