Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa
In this study, the C-MoKa technique was used to identify a rare case of Y chromosome translocation involving chromosome 15 in a male with Turner syndrome, which was challenging to detect using conventional chromosomal G-banding and CNV-seq. C-MoKa is a rapid and accurate cytogenetic detection method that offers high-resolution detection of structural variations and improved breakpoint characterization, thereby overcoming the limitations of traditional karyotyping approaches.
Authors
- Aimin Deng
- Wenbo Liu (ORCID: https://orcid.org/0000-0002-6739-0301)
- Yimin Wang (ORCID: https://orcid.org/0000-0003-2515-6602)
- Yuxia Yang
- Min Liu
- Jia Deng
- Jinhao Liu
- Xianghe Meng
- Liyuan Zhou
Institutions
- Genomics Medicine (Ireland) (IE)
- Changsha Hospital for Maternal and Child Health Care (CN)
- Hunan Provincial Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2026-03-27
- DOI
- https://doi.org/10.1186/s13039-026-00756-5
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00