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Updated: Dec 11, 2025

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
[Xq;Yq translocation in a patient with premature ovarian insufficiency]
Suting Yang1, Yanan Zhang, Jiancheng Hu
1Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China. wanghua213@aliyun.com.
Objective:
To explore the genetic basis for a patient with premature ovarian insufficiency.
Methods:
Chromosomal G-banding and C-banding, single nucleotide polymorphism array (SNP-array), fluorescence in situ hybridization (FISH) and Y chromosome microdeletion assay were used for the analysis.
Results:
With the combined techniques, the patient was found to carry a Xq;Yq translocation, with a karyotype of 46,X,der(X)t(X;Y)(q25;q12).ish der(X)(Tel XYp+,Tel XYq+,Yq12+).
Conclusion:
Unbalanced Xq;Yq translocation probably underlay the premature ovarian insufficiency in this patient.
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