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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn511374-20191001-00505 | DOI Listing |
Publication Analysis
Top Keywords
premature ovarian
12
patient premature
8
xqyq translocation
8
[xqyq translocation
4
patient
4
translocation patient
4
ovarian insufficiency]
4
insufficiency] objective
4
objective explore
4
explore genetic
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!