[Genetic analysis of a 45,X male fetus]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10;37(10):1176-1178. doi: 10.3760/cma.j.cn511374-20190617-00295.
[Article in Chinese]

Abstract

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.

MeSH terms

  • Animals
  • Chromosomes, Insect
  • Female
  • Fetus
  • Genetic Testing*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping*
  • Male
  • Pregnancy
  • Prenatal Diagnosis*
  • Translocation, Genetic*